Canonical Allele Identifier: CA390747932

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434750T>G (hg19) ; chr14:g.87968406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968406T>G , CM000676.2:g.87968406T>G	GRCh38
NC_000014.8:g.88434750T>G , CM000676.1:g.88434750T>G	GRCh37
NC_000014.7:g.87504503T>G	NCBI36
NG_011853.2:g.30158A>C
NG_011853.3:g.30158A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.837A>C MANE Select	ENSP00000261304.2:p.Leu279Phe
ENST00000261304.6:c.837A>C	ENSP00000261304.2:p.Leu279Phe
ENST00000393568.8:c.768A>C	ENSP00000377198.4:p.Leu256Phe
ENST00000393569.6:c.759A>C	ENSP00000377199.2:p.Leu253Phe
ENST00000474294.6:n.827A>C
ENST00000477716.3:n.592A>C
ENST00000544807.6:c.669A>C	ENSP00000437513.2:p.Leu223Phe
ENST00000555000.5:c.204A>C	ENSP00000450472.1:p.Leu68Phe
ENST00000557316.5:c.*235A>C	ENSP00000452314.1:n.*235A>C
ENST00000622264.4:c.827A>C
NM_000153.3:c.837A>C	NP_000144.2:p.Leu279Phe
NM_001201401.1:c.768A>C	NP_001188330.1:p.Leu256Phe
NM_001201402.1:c.759A>C	NP_001188331.1:p.Leu253Phe
XM_011536618.1:c.669A>C	XP_011534920.1:p.Leu223Phe
XM_011536618.2:c.669A>C	XP_011534920.1:p.Leu223Phe
NM_000153.4:c.837A>C MANE Select	NP_000144.2:p.Leu279Phe
NM_001201401.2:c.768A>C	NP_001188330.1:p.Leu256Phe
NM_001201402.2:c.759A>C	NP_001188331.1:p.Leu253Phe