Canonical Allele Identifier: CA390747407

Gene: GALC

Linked Data

• gnomAD v4: 14-87965510-A-G
• MyVariant Identifiers: chr14:g.88431854A>G (hg19) ; chr14:g.87965510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965510A>G , CM000676.2:g.87965510A>G	GRCh38
NC_000014.8:g.88431854A>G , CM000676.1:g.88431854A>G	GRCh37
NC_000014.7:g.87501607A>G	NCBI36
NG_011853.2:g.33054T>C
NG_011853.3:g.33054T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1028T>C MANE Select	ENSP00000261304.2:p.Val343Ala
ENST00000261304.6:c.1028T>C	ENSP00000261304.2:p.Val343Ala
ENST00000393568.8:c.959T>C	ENSP00000377198.4:p.Val320Ala
ENST00000393569.6:c.950T>C	ENSP00000377199.2:p.Val317Ala
ENST00000474294.6:n.1018T>C
ENST00000544807.6:c.860T>C	ENSP00000437513.2:p.Val287Ala
ENST00000555000.5:c.395T>C	ENSP00000450472.1:p.Val132Ala
ENST00000557316.5:c.*426T>C	ENSP00000452314.1:n.*426T>C
ENST00000557520.1:n.114T>C
ENST00000622264.4:c.1018T>C
NM_000153.3:c.1028T>C	NP_000144.2:p.Val343Ala
NM_001201401.1:c.959T>C	NP_001188330.1:p.Val320Ala
NM_001201402.1:c.950T>C	NP_001188331.1:p.Val317Ala
XM_011536618.1:c.860T>C	XP_011534920.1:p.Val287Ala
XM_011536618.2:c.860T>C	XP_011534920.1:p.Val287Ala
NM_000153.4:c.1028T>C MANE Select	NP_000144.2:p.Val343Ala
NM_001201401.2:c.959T>C	NP_001188330.1:p.Val320Ala
NM_001201402.2:c.950T>C	NP_001188331.1:p.Val317Ala