Canonical Allele Identifier: CA390749665

Gene: GALC

Linked Data

• gnomAD v4: 14-87976457-A-G
• MyVariant Identifiers: chr14:g.88442801A>G (hg19) ; chr14:g.87976457A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976457A>G , CM000676.2:g.87976457A>G	GRCh38
NC_000014.8:g.88442801A>G , CM000676.1:g.88442801A>G	GRCh37
NC_000014.7:g.87512554A>G	NCBI36
NG_011853.2:g.22107T>C
NG_011853.3:g.22107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.653T>C MANE Select	ENSP00000261304.2:p.Leu218Pro
ENST00000261304.6:c.653T>C	ENSP00000261304.2:p.Leu218Pro
ENST00000393568.8:c.584T>C	ENSP00000377198.4:p.Leu195Pro
ENST00000393569.6:c.575T>C	ENSP00000377199.2:p.Leu192Pro
ENST00000474294.6:n.643T>C
ENST00000477716.3:n.408T>C
ENST00000544807.6:c.485T>C	ENSP00000437513.2:p.Leu162Pro
ENST00000554916.5:n.532T>C
ENST00000555000.5:c.20T>C	ENSP00000450472.1:p.Leu7Pro
ENST00000557316.5:c.*51T>C	ENSP00000452314.1:n.*51T>C
ENST00000622264.4:c.643T>C
NM_000153.3:c.653T>C	NP_000144.2:p.Leu218Pro
NM_001201401.1:c.584T>C	NP_001188330.1:p.Leu195Pro
NM_001201402.1:c.575T>C	NP_001188331.1:p.Leu192Pro
XM_011536618.1:c.485T>C	XP_011534920.1:p.Leu162Pro
XM_011536618.2:c.485T>C	XP_011534920.1:p.Leu162Pro
NM_000153.4:c.653T>C MANE Select	NP_000144.2:p.Leu218Pro
NM_001201401.2:c.584T>C	NP_001188330.1:p.Leu195Pro
NM_001201402.2:c.575T>C	NP_001188331.1:p.Leu192Pro