Canonical Allele Identifier: CA390753420

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88454846T>G (hg19) ; chr14:g.87988502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988502T>G , CM000676.2:g.87988502T>G	GRCh38
NC_000014.8:g.88454846T>G , CM000676.1:g.88454846T>G	GRCh37
NC_000014.7:g.87524599T>G	NCBI36
NG_011853.2:g.10062A>C
NG_011853.3:g.10062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.217A>C MANE Select	ENSP00000261304.2:p.Asn73His
ENST00000261304.6:c.217A>C	ENSP00000261304.2:p.Asn73His
ENST00000393568.8:c.196-295A>C	ENSP00000377198.4:n.196-295A>C
ENST00000393569.6:c.139A>C	ENSP00000377199.2:p.Asn47His
ENST00000474294.6:n.207A>C
ENST00000544807.6:c.49A>C	ENSP00000437513.2:p.Asn17His
ENST00000554372.5:c.217A>C	ENSP00000451884.1:p.Asn73His
ENST00000554916.5:n.96A>C
ENST00000555956.1:n.22A>C
ENST00000556879.5:c.277A>C	ENSP00000452208.1:n.277A>C
ENST00000557316.5:c.217A>C	ENSP00000452314.1:p.Asn73His
ENST00000622264.4:c.207A>C
NM_000153.3:c.217A>C	NP_000144.2:p.Asn73His
NM_001201401.1:c.196-295A>C	NP_001188330.1:n.196-295A>C
NM_001201402.1:c.139A>C	NP_001188331.1:p.Asn47His
XM_011536618.1:c.49A>C	XP_011534920.1:p.Asn17His
XM_011536618.2:c.49A>C	XP_011534920.1:p.Asn17His
NM_000153.4:c.217A>C MANE Select	NP_000144.2:p.Asn73His
NM_001201401.2:c.196-295A>C	NP_001188330.1:n.196-295A>C
NM_001201402.2:c.139A>C	NP_001188331.1:p.Asn47His