Canonical Allele Identifier: CA390749591

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442781C>A (hg19) ; chr14:g.87976437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976437C>A , CM000676.2:g.87976437C>A	GRCh38
NC_000014.8:g.88442781C>A , CM000676.1:g.88442781C>A	GRCh37
NC_000014.7:g.87512534C>A	NCBI36
NG_011853.2:g.22127G>T
NG_011853.3:g.22127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.673G>T MANE Select	ENSP00000261304.2:p.Ala225Ser
ENST00000261304.6:c.673G>T	ENSP00000261304.2:p.Ala225Ser
ENST00000393568.8:c.604G>T	ENSP00000377198.4:p.Ala202Ser
ENST00000393569.6:c.595G>T	ENSP00000377199.2:p.Ala199Ser
ENST00000474294.6:n.663G>T
ENST00000477716.3:n.428G>T
ENST00000544807.6:c.505G>T	ENSP00000437513.2:p.Ala169Ser
ENST00000554916.5:n.552G>T
ENST00000555000.5:c.40G>T	ENSP00000450472.1:p.Ala14Ser
ENST00000557316.5:c.*71G>T	ENSP00000452314.1:n.*71G>T
ENST00000622264.4:c.663G>T
NM_000153.3:c.673G>T	NP_000144.2:p.Ala225Ser
NM_001201401.1:c.604G>T	NP_001188330.1:p.Ala202Ser
NM_001201402.1:c.595G>T	NP_001188331.1:p.Ala199Ser
XM_011536618.1:c.505G>T	XP_011534920.1:p.Ala169Ser
XM_011536618.2:c.505G>T	XP_011534920.1:p.Ala169Ser
NM_000153.4:c.673G>T MANE Select	NP_000144.2:p.Ala225Ser
NM_001201401.2:c.604G>T	NP_001188330.1:p.Ala202Ser
NM_001201402.2:c.595G>T	NP_001188331.1:p.Ala199Ser