Canonical Allele Identifier: CA1069794882

Gene: GUCY1A1

Linked Data

• dbSNP Id: rs1734369226
• gnomAD v3: 4-155724304-T-G
• gnomAD v4: 4-155724304-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.155724304T>G , CM000666.2:g.155724304T>G	GRCh38
NC_000004.11:g.156645456T>G , CM000666.1:g.156645456T>G	GRCh37
NC_000004.10:g.156864906T>G	NCBI36
NG_034128.1:g.62595T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506455.6:c.1871+2112T>G MANE Select	ENSP00000424361.1:n.1871+2112T>G
ENST00000296518.11:c.1871+2112T>G	ENSP00000296518.7:n.1871+2112T>G
ENST00000393832.7:c.1097+2112T>G	ENSP00000377418.3:n.1097+2112T>G
ENST00000443668.6:c.*1314+2112T>G	ENSP00000409903.2:n.*1314+2112T>G
ENST00000455639.6:c.1871+2112T>G	ENSP00000412201.2:n.1871+2112T>G
ENST00000506455.5:c.1871+2112T>G	ENSP00000424361.1:n.1871+2112T>G
ENST00000509901.5:c.*243+2112T>G	ENSP00000424863.1:n.*243+2112T>G
ENST00000511108.5:c.1871+2112T>G	ENSP00000421493.1:n.1871+2112T>G
ENST00000513574.1:c.1871+2112T>G	ENSP00000426040.1:n.1871+2112T>G
ENST00000515201.5:c.*243+2112T>G	ENSP00000422141.1:n.*243+2112T>G
ENST00000621234.4:c.*243+2112T>G	ENSP00000479710.1:n.*243+2112T>G
NM_000856.5:c.1871+2112T>G	NP_000847.2:n.1871+2112T>G
NM_001130682.2:c.1871+2112T>G	NP_001124154.1:n.1871+2112T>G
NM_001130683.3:c.1871+2112T>G	NP_001124155.1:n.1871+2112T>G
NM_001130684.2:c.1871+2112T>G	NP_001124156.1:n.1871+2112T>G
NM_001130685.2:c.1166+2112T>G	NP_001124157.1:n.1166+2112T>G
NM_001256449.1:c.1871+2112T>G	NP_001243378.1:n.1871+2112T>G
XM_005262955.1:c.1871+2112T>G	XP_005263012.1:n.1871+2112T>G
XM_005262956.1:c.1166+2112T>G	XP_005263013.1:n.1166+2112T>G
XM_005262957.1:c.1166+2112T>G	XP_005263014.1:n.1166+2112T>G
XM_006714196.1:c.1871+2112T>G	XP_006714259.1:n.1871+2112T>G
XM_006714197.1:c.1871+2112T>G	XP_006714260.1:n.1871+2112T>G
XM_006714198.1:c.1166+2112T>G	XP_006714261.1:n.1166+2112T>G
XM_011531899.1:c.1871+2112T>G	XP_011530201.1:n.1871+2112T>G
XM_011531900.1:c.1166+2112T>G	XP_011530202.1:n.1166+2112T>G
XR_939379.1:n.4885+108A>C
XR_939380.1:n.4885+108A>C
XR_939381.1:n.4826+108A>C
XR_939382.1:n.4708+108A>C
XR_939383.1:n.4293+108A>C
XR_939384.1:n.4615+108A>C
XR_939385.1:n.4201+108A>C
XR_939386.1:n.1591+108A>C
XR_939387.1:n.1858+108A>C
XR_939388.1:n.1588+108A>C
XM_005262955.3:c.1871+2112T>G	XP_005263012.1:n.1871+2112T>G
XM_005262956.3:c.1166+2112T>G	XP_005263013.1:n.1166+2112T>G
XM_005262957.3:c.1166+2112T>G	XP_005263014.1:n.1166+2112T>G
XM_006714196.2:c.1871+2112T>G	XP_006714259.1:n.1871+2112T>G
XM_006714197.2:c.1871+2112T>G	XP_006714260.1:n.1871+2112T>G
XM_011531900.2:c.1166+2112T>G	XP_011530202.1:n.1166+2112T>G
XR_001741900.1:n.318A>C
NM_000856.6:c.1871+2112T>G	NP_000847.2:n.1871+2112T>G
NM_001130682.3:c.1871+2112T>G MANE Select	NP_001124154.1:n.1871+2112T>G
NM_001130683.4:c.1871+2112T>G	NP_001124155.1:n.1871+2112T>G
NM_001130684.3:c.1871+2112T>G	NP_001124156.1:n.1871+2112T>G
NM_001130685.3:c.1166+2112T>G	NP_001124157.1:n.1166+2112T>G
NM_001256449.2:c.1871+2112T>G	NP_001243378.1:n.1871+2112T>G
NM_001379666.1:c.1871+2112T>G	NP_001366595.1:n.1871+2112T>G
NM_001379667.1:c.1871+2112T>G	NP_001366596.1:n.1871+2112T>G
NM_001379668.1:c.1871+2112T>G	NP_001366597.1:n.1871+2112T>G
NM_001379669.1:c.1871+2112T>G	NP_001366598.1:n.1871+2112T>G
NM_001379670.1:c.1871+2112T>G	NP_001366599.1:n.1871+2112T>G
NM_001379671.1:c.1871+2112T>G	NP_001366600.1:n.1871+2112T>G
NM_001379672.1:c.1871+2112T>G	NP_001366601.1:n.1871+2112T>G
NM_001379673.1:c.1871+2112T>G	NP_001366602.1:n.1871+2112T>G
NM_001379674.1:c.1871+2112T>G	NP_001366603.1:n.1871+2112T>G
NM_001379675.1:c.1717-5726T>G	NP_001366604.1:n.1717-5726T>G
NM_001379676.1:c.1364+2112T>G	NP_001366605.1:n.1364+2112T>G