Canonical Allele Identifier: CA390747856

Gene: GALC

Linked Data

• gnomAD v4: 14-87968390-C-A
• MyVariant Identifiers: chr14:g.88434734C>A (hg19) ; chr14:g.87968390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968390C>A , CM000676.2:g.87968390C>A	GRCh38
NC_000014.8:g.88434734C>A , CM000676.1:g.88434734C>A	GRCh37
NC_000014.7:g.87504487C>A	NCBI36
NG_011853.2:g.30174G>T
NG_011853.3:g.30174G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.853G>T MANE Select	ENSP00000261304.2:p.Ala285Ser
ENST00000261304.6:c.853G>T	ENSP00000261304.2:p.Ala285Ser
ENST00000393568.8:c.784G>T	ENSP00000377198.4:p.Ala262Ser
ENST00000393569.6:c.775G>T	ENSP00000377199.2:p.Ala259Ser
ENST00000474294.6:n.843G>T
ENST00000544807.6:c.685G>T	ENSP00000437513.2:p.Ala229Ser
ENST00000555000.5:c.220G>T	ENSP00000450472.1:p.Ala74Ser
ENST00000557316.5:c.*251G>T	ENSP00000452314.1:n.*251G>T
ENST00000622264.4:c.843G>T
NM_000153.3:c.853G>T	NP_000144.2:p.Ala285Ser
NM_001201401.1:c.784G>T	NP_001188330.1:p.Ala262Ser
NM_001201402.1:c.775G>T	NP_001188331.1:p.Ala259Ser
XM_011536618.1:c.685G>T	XP_011534920.1:p.Ala229Ser
XM_011536618.2:c.685G>T	XP_011534920.1:p.Ala229Ser
NM_000153.4:c.853G>T MANE Select	NP_000144.2:p.Ala285Ser
NM_001201401.2:c.784G>T	NP_001188330.1:p.Ala262Ser
NM_001201402.2:c.775G>T	NP_001188331.1:p.Ala259Ser