Canonical Allele Identifier: CA1054781784

Gene: GYG1

Linked Data

• dbSNP Id: rs1713604199
• gnomAD v3: 3-149009550-T-C
• gnomAD v4: 3-149009550-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009550T>C , CM000665.2:g.149009550T>C	GRCh38
NC_000003.11:g.148727337T>C , CM000665.1:g.148727337T>C	GRCh37
NC_000003.10:g.150210027T>C	NCBI36
NG_027677.1:g.23143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.608+148T>C MANE Select	ENSP00000340736.4:n.608+148T>C
ENST00000296048.10:c.608+148T>C	ENSP00000296048.6:n.608+148T>C
ENST00000345003.8:c.608+148T>C	ENSP00000340736.4:n.608+148T>C
ENST00000461191.1:c.596+148T>C	ENSP00000420247.1:n.596+148T>C
ENST00000469873.1:n.522+148T>C
ENST00000479119.1:n.224+148T>C
ENST00000483267.5:c.469+12658T>C	ENSP00000419499.1:n.469+12658T>C
ENST00000484197.5:c.608+148T>C	ENSP00000420683.1:n.608+148T>C
ENST00000627418.2:c.469+12658T>C	ENSP00000486061.1:n.469+12658T>C
NM_001184720.1:c.608+148T>C	NP_001171649.1:n.608+148T>C
NM_001184721.1:c.608+148T>C	NP_001171650.1:n.608+148T>C
NM_004130.3:c.608+148T>C	NP_004121.2:n.608+148T>C
XM_017006275.1:c.431+148T>C	XP_016861764.1:n.431+148T>C
XM_017006276.1:c.146+148T>C	XP_016861765.1:n.146+148T>C
NM_004130.4:c.608+148T>C MANE Select	NP_004121.2:n.608+148T>C
NM_001184720.2:c.608+148T>C	NP_001171649.1:n.608+148T>C
NM_001184721.2:c.608+148T>C	NP_001171650.1:n.608+148T>C