Canonical Allele Identifier: CA390745888

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88407882C>A (hg19) ; chr14:g.87941538C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941538C>A , CM000676.2:g.87941538C>A	GRCh38
NC_000014.8:g.88407882C>A , CM000676.1:g.88407882C>A	GRCh37
NC_000014.7:g.87477635C>A	NCBI36
NG_011853.2:g.57026G>T
NG_011853.3:g.57026G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1691G>T MANE Select	ENSP00000261304.2:p.Cys564Phe
ENST00000261304.6:c.1691G>T	ENSP00000261304.2:p.Cys564Phe
ENST00000393568.8:c.1622G>T	ENSP00000377198.4:p.Cys541Phe
ENST00000393569.6:c.1613G>T	ENSP00000377199.2:p.Cys538Phe
ENST00000544807.6:c.1523G>T	ENSP00000437513.2:p.Cys508Phe
ENST00000555000.5:c.1058G>T	ENSP00000450472.1:p.Cys353Phe
ENST00000555179.1:c.227G>T
ENST00000557316.5:c.*1089G>T	ENSP00000452314.1:n.*1089G>T
NM_000153.3:c.1691G>T	NP_000144.2:p.Cys564Phe
NM_001201401.1:c.1622G>T	NP_001188330.1:p.Cys541Phe
NM_001201402.1:c.1613G>T	NP_001188331.1:p.Cys538Phe
XM_011536618.1:c.1523G>T	XP_011534920.1:p.Cys508Phe
XM_011536618.2:c.1523G>T	XP_011534920.1:p.Cys508Phe
NM_000153.4:c.1691G>T MANE Select	NP_000144.2:p.Cys564Phe
NM_001201401.2:c.1622G>T	NP_001188330.1:p.Cys541Phe
NM_001201402.2:c.1613G>T	NP_001188331.1:p.Cys538Phe