Canonical Allele Identifier: CA390747850

Gene: GALC

Linked Data

• gnomAD v4: 14-87968387-C-T
• MyVariant Identifiers: chr14:g.88434731C>T (hg19) ; chr14:g.87968387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968387C>T , CM000676.2:g.87968387C>T	GRCh38
NC_000014.8:g.88434731C>T , CM000676.1:g.88434731C>T	GRCh37
NC_000014.7:g.87504484C>T	NCBI36
NG_011853.2:g.30177G>A
NG_011853.3:g.30177G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.856G>A MANE Select	ENSP00000261304.2:p.Gly286Ser
ENST00000261304.6:c.856G>A	ENSP00000261304.2:p.Gly286Ser
ENST00000393568.8:c.787G>A	ENSP00000377198.4:p.Gly263Ser
ENST00000393569.6:c.778G>A	ENSP00000377199.2:p.Gly260Ser
ENST00000474294.6:n.846G>A
ENST00000544807.6:c.688G>A	ENSP00000437513.2:p.Gly230Ser
ENST00000555000.5:c.223G>A	ENSP00000450472.1:p.Gly75Ser
ENST00000557316.5:c.*254G>A	ENSP00000452314.1:n.*254G>A
ENST00000622264.4:c.846G>A
NM_000153.3:c.856G>A	NP_000144.2:p.Gly286Ser
NM_001201401.1:c.787G>A	NP_001188330.1:p.Gly263Ser
NM_001201402.1:c.778G>A	NP_001188331.1:p.Gly260Ser
XM_011536618.1:c.688G>A	XP_011534920.1:p.Gly230Ser
XM_011536618.2:c.688G>A	XP_011534920.1:p.Gly230Ser
NM_000153.4:c.856G>A MANE Select	NP_000144.2:p.Gly286Ser
NM_001201401.2:c.787G>A	NP_001188330.1:p.Gly263Ser
NM_001201402.2:c.778G>A	NP_001188331.1:p.Gly260Ser