Canonical Allele Identifier: CA390747576

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88431931C>G (hg19) ; chr14:g.87965587C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965587C>G , CM000676.2:g.87965587C>G	GRCh38
NC_000014.8:g.88431931C>G , CM000676.1:g.88431931C>G	GRCh37
NC_000014.7:g.87501684C>G	NCBI36
NG_011853.2:g.32977G>C
NG_011853.3:g.32977G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.951G>C MANE Select	ENSP00000261304.2:p.Leu317Phe
ENST00000261304.6:c.951G>C	ENSP00000261304.2:p.Leu317Phe
ENST00000393568.8:c.882G>C	ENSP00000377198.4:p.Leu294Phe
ENST00000393569.6:c.873G>C	ENSP00000377199.2:p.Leu291Phe
ENST00000474294.6:n.941G>C
ENST00000544807.6:c.783G>C	ENSP00000437513.2:p.Leu261Phe
ENST00000555000.5:c.318G>C	ENSP00000450472.1:p.Leu106Phe
ENST00000557316.5:c.*349G>C	ENSP00000452314.1:n.*349G>C
ENST00000557520.1:n.37G>C
ENST00000622264.4:c.941G>C
NM_000153.3:c.951G>C	NP_000144.2:p.Leu317Phe
NM_001201401.1:c.882G>C	NP_001188330.1:p.Leu294Phe
NM_001201402.1:c.873G>C	NP_001188331.1:p.Leu291Phe
XM_011536618.1:c.783G>C	XP_011534920.1:p.Leu261Phe
XM_011536618.2:c.783G>C	XP_011534920.1:p.Leu261Phe
NM_000153.4:c.951G>C MANE Select	NP_000144.2:p.Leu317Phe
NM_001201401.2:c.882G>C	NP_001188330.1:p.Leu294Phe
NM_001201402.2:c.873G>C	NP_001188331.1:p.Leu291Phe