Canonical Allele Identifier: CA390749634

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442793C>A (hg19) ; chr14:g.87976449C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976449C>A , CM000676.2:g.87976449C>A	GRCh38
NC_000014.8:g.88442793C>A , CM000676.1:g.88442793C>A	GRCh37
NC_000014.7:g.87512546C>A	NCBI36
NG_011853.2:g.22115G>T
NG_011853.3:g.22115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.661G>T MANE Select	ENSP00000261304.2:p.Val221Leu
ENST00000261304.6:c.661G>T	ENSP00000261304.2:p.Val221Leu
ENST00000393568.8:c.592G>T	ENSP00000377198.4:p.Val198Leu
ENST00000393569.6:c.583G>T	ENSP00000377199.2:p.Val195Leu
ENST00000474294.6:n.651G>T
ENST00000477716.3:n.416G>T
ENST00000544807.6:c.493G>T	ENSP00000437513.2:p.Val165Leu
ENST00000554916.5:n.540G>T
ENST00000555000.5:c.28G>T	ENSP00000450472.1:p.Val10Leu
ENST00000557316.5:c.*59G>T	ENSP00000452314.1:n.*59G>T
ENST00000622264.4:c.651G>T
NM_000153.3:c.661G>T	NP_000144.2:p.Val221Leu
NM_001201401.1:c.592G>T	NP_001188330.1:p.Val198Leu
NM_001201402.1:c.583G>T	NP_001188331.1:p.Val195Leu
XM_011536618.1:c.493G>T	XP_011534920.1:p.Val165Leu
XM_011536618.2:c.493G>T	XP_011534920.1:p.Val165Leu
NM_000153.4:c.661G>T MANE Select	NP_000144.2:p.Val221Leu
NM_001201401.2:c.592G>T	NP_001188330.1:p.Val198Leu
NM_001201402.2:c.583G>T	NP_001188331.1:p.Val195Leu