Canonical Allele Identifier: CA390752611

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452897G>T (hg19) ; chr14:g.87986553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986553G>T , CM000676.2:g.87986553G>T	GRCh38
NC_000014.8:g.88452897G>T , CM000676.1:g.88452897G>T	GRCh37
NC_000014.7:g.87522650G>T	NCBI36
NG_011853.2:g.12011C>A
NG_011853.3:g.12011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.378C>A MANE Select	ENSP00000261304.2:p.Phe126Leu
ENST00000261304.6:c.378C>A	ENSP00000261304.2:p.Phe126Leu
ENST00000393568.8:c.309C>A	ENSP00000377198.4:p.Phe103Leu
ENST00000393569.6:c.300C>A	ENSP00000377199.2:p.Phe100Leu
ENST00000474294.6:n.368C>A
ENST00000544807.6:c.210C>A	ENSP00000437513.2:p.Phe70Leu
ENST00000554372.5:c.*127C>A	ENSP00000451884.1:n.*127C>A
ENST00000554916.5:n.257C>A
ENST00000556261.5:n.79C>A
ENST00000556879.5:c.438C>A	ENSP00000452208.1:n.438C>A
ENST00000557316.5:c.378C>A	ENSP00000452314.1:p.Phe126Leu
ENST00000622264.4:c.368C>A
NM_000153.3:c.378C>A	NP_000144.2:p.Phe126Leu
NM_001201401.1:c.309C>A	NP_001188330.1:p.Phe103Leu
NM_001201402.1:c.300C>A	NP_001188331.1:p.Phe100Leu
XM_011536618.1:c.210C>A	XP_011534920.1:p.Phe70Leu
XM_011536618.2:c.210C>A	XP_011534920.1:p.Phe70Leu
NM_000153.4:c.378C>A MANE Select	NP_000144.2:p.Phe126Leu
NM_001201401.2:c.309C>A	NP_001188330.1:p.Phe103Leu
NM_001201402.2:c.300C>A	NP_001188331.1:p.Phe100Leu