Canonical Allele Identifier: CA390751375

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450743T>G (hg19) ; chr14:g.87984399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984399T>G , CM000676.2:g.87984399T>G	GRCh38
NC_000014.8:g.88450743T>G , CM000676.1:g.88450743T>G	GRCh37
NC_000014.7:g.87520496T>G	NCBI36
NG_011853.2:g.14165A>C
NG_011853.3:g.14165A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.577A>C MANE Select	ENSP00000261304.2:p.Ile193Leu
ENST00000261304.6:c.577A>C	ENSP00000261304.2:p.Ile193Leu
ENST00000393568.8:c.508A>C	ENSP00000377198.4:p.Ile170Leu
ENST00000393569.6:c.499A>C	ENSP00000377199.2:p.Ile167Leu
ENST00000474294.6:n.567A>C
ENST00000544807.6:c.409A>C	ENSP00000437513.2:p.Ile137Leu
ENST00000554372.5:c.*326A>C	ENSP00000451884.1:n.*326A>C
ENST00000554916.5:n.456A>C
ENST00000556261.5:n.278A>C
ENST00000557316.5:c.577A>C	ENSP00000452314.1:p.Ile193Leu
ENST00000622264.4:c.567A>C
NM_000153.3:c.577A>C	NP_000144.2:p.Ile193Leu
NM_001201401.1:c.508A>C	NP_001188330.1:p.Ile170Leu
NM_001201402.1:c.499A>C	NP_001188331.1:p.Ile167Leu
XM_011536618.1:c.409A>C	XP_011534920.1:p.Ile137Leu
XM_011536618.2:c.409A>C	XP_011534920.1:p.Ile137Leu
NM_000153.4:c.577A>C MANE Select	NP_000144.2:p.Ile193Leu
NM_001201401.2:c.508A>C	NP_001188330.1:p.Ile170Leu
NM_001201402.2:c.499A>C	NP_001188331.1:p.Ile167Leu