Canonical Allele Identifier: CA358540516

Gene: GUCY1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.155711210C>G , CM000666.2:g.155711210C>G	GRCh38
NC_000004.11:g.156632362C>G , CM000666.1:g.156632362C>G	GRCh37
NC_000004.10:g.156851812C>G	NCBI36
NG_034128.1:g.49501C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001130682.3:c.1045C>G MANE Select	NP_001124154.1:p.Arg349Gly
ENST00000506455.6:c.1045C>G MANE Select	ENSP00000424361.1:p.Arg349Gly
NM_000856.5:c.1045C>G	NP_000847.2:p.Arg349Gly
NM_000856.6:c.1045C>G	NP_000847.2:p.Arg349Gly
NM_001130682.2:c.1045C>G	NP_001124154.1:p.Arg349Gly
NM_001130683.3:c.1045C>G	NP_001124155.1:p.Arg349Gly
NM_001130683.4:c.1045C>G	NP_001124155.1:p.Arg349Gly
NM_001130684.2:c.1045C>G	NP_001124156.1:p.Arg349Gly
NM_001130684.3:c.1045C>G	NP_001124156.1:p.Arg349Gly
NM_001130685.2:c.340C>G	NP_001124157.1:p.Arg114Gly
NM_001130685.3:c.340C>G	NP_001124157.1:p.Arg114Gly
NM_001130687.2:c.1045C>G	NP_001124159.1:p.Arg349Gly
NM_001130687.3:c.1045C>G	NP_001124159.1:p.Arg349Gly
NM_001256449.1:c.1045C>G	NP_001243378.1:p.Arg349Gly
NM_001256449.2:c.1045C>G	NP_001243378.1:p.Arg349Gly
NM_001379666.1:c.1045C>G	NP_001366595.1:p.Arg349Gly
NM_001379667.1:c.1045C>G	NP_001366596.1:p.Arg349Gly
NM_001379668.1:c.1045C>G	NP_001366597.1:p.Arg349Gly
NM_001379669.1:c.1045C>G	NP_001366598.1:p.Arg349Gly
NM_001379670.1:c.1045C>G	NP_001366599.1:p.Arg349Gly
NM_001379671.1:c.1045C>G	NP_001366600.1:p.Arg349Gly
NM_001379672.1:c.1045C>G	NP_001366601.1:p.Arg349Gly
NM_001379673.1:c.1045C>G	NP_001366602.1:p.Arg349Gly
NM_001379674.1:c.1045C>G	NP_001366603.1:p.Arg349Gly
NM_001379675.1:c.1045C>G	NP_001366604.1:p.Arg349Gly
NM_001379676.1:c.538C>G	NP_001366605.1:p.Arg180Gly
ENST00000296518.11:c.1045C>G	ENSP00000296518.7:p.Arg349Gly
ENST00000393832.7:c.271C>G	ENSP00000377418.3:p.Arg91Gly
ENST00000443668.6:c.*488C>G	ENSP00000409903.2:n.*488C>G
ENST00000455639.6:c.1045C>G	ENSP00000412201.2:p.Arg349Gly
ENST00000506455.5:c.1045C>G	ENSP00000424361.1:p.Arg349Gly
ENST00000509901.5:c.194-5949C>G	ENSP00000424863.1:n.194-5949C>G
ENST00000511108.5:c.1045C>G	ENSP00000421493.1:p.Arg349Gly
ENST00000511507.5:c.1045C>G	ENSP00000426968.1:p.Arg349Gly
ENST00000512983.5:n.1369C>G
ENST00000513574.1:c.1045C>G	ENSP00000426040.1:p.Arg349Gly
ENST00000515201.5:c.376+2916C>G	ENSP00000422141.1:n.376+2916C>G
ENST00000621234.4:c.376+2916C>G	ENSP00000479710.1:n.376+2916C>G
XM_005262955.1:c.1045C>G	XP_005263012.1:p.Arg349Gly
XM_005262955.3:c.1045C>G	XP_005263012.1:p.Arg349Gly
XM_005262956.1:c.340C>G	XP_005263013.1:p.Arg114Gly
XM_005262956.3:c.340C>G	XP_005263013.1:p.Arg114Gly
XM_005262957.1:c.340C>G	XP_005263014.1:p.Arg114Gly
XM_005262957.3:c.340C>G	XP_005263014.1:p.Arg114Gly
XM_006714196.1:c.1045C>G	XP_006714259.1:p.Arg349Gly
XM_006714196.2:c.1045C>G	XP_006714259.1:p.Arg349Gly
XM_006714197.1:c.1045C>G	XP_006714260.1:p.Arg349Gly
XM_006714197.2:c.1045C>G	XP_006714260.1:p.Arg349Gly
XM_006714198.1:c.340C>G	XP_006714261.1:p.Arg114Gly
XM_011531899.1:c.1045C>G	XP_011530201.1:p.Arg349Gly
XM_011531900.1:c.340C>G	XP_011530202.1:p.Arg114Gly
XM_011531900.2:c.340C>G	XP_011530202.1:p.Arg114Gly