Canonical Allele Identifier: CA264702237

Gene: GALC

Linked Data

• dbSNP Id: rs1019954881
• gnomAD v4: 14-87965591-T-G
• MyVariant Identifiers: chr14:g.88431935T>G (hg19) ; chr14:g.87965591T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965591T>G , CM000676.2:g.87965591T>G	GRCh38
NC_000014.8:g.88431935T>G , CM000676.1:g.88431935T>G	GRCh37
NC_000014.7:g.87501688T>G	NCBI36
NG_011853.2:g.32973A>C
NG_011853.3:g.32973A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.947A>C MANE Select	ENSP00000261304.2:p.Gln316Pro
ENST00000261304.6:c.947A>C	ENSP00000261304.2:p.Gln316Pro
ENST00000393568.8:c.878A>C	ENSP00000377198.4:p.Gln293Pro
ENST00000393569.6:c.869A>C	ENSP00000377199.2:p.Gln290Pro
ENST00000474294.6:n.937A>C
ENST00000544807.6:c.779A>C	ENSP00000437513.2:p.Gln260Pro
ENST00000555000.5:c.314A>C	ENSP00000450472.1:p.Gln105Pro
ENST00000557316.5:c.*345A>C	ENSP00000452314.1:n.*345A>C
ENST00000557520.1:n.33A>C
ENST00000622264.4:c.937A>C
NM_000153.3:c.947A>C	NP_000144.2:p.Gln316Pro
NM_001201401.1:c.878A>C	NP_001188330.1:p.Gln293Pro
NM_001201402.1:c.869A>C	NP_001188331.1:p.Gln290Pro
XM_011536618.1:c.779A>C	XP_011534920.1:p.Gln260Pro
XM_011536618.2:c.779A>C	XP_011534920.1:p.Gln260Pro
NM_000153.4:c.947A>C MANE Select	NP_000144.2:p.Gln316Pro
NM_001201401.2:c.878A>C	NP_001188330.1:p.Gln293Pro
NM_001201402.2:c.869A>C	NP_001188331.1:p.Gln290Pro