Canonical Allele Identifier: CA390752743

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452923G>C (hg19) ; chr14:g.87986579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986579G>C , CM000676.2:g.87986579G>C	GRCh38
NC_000014.8:g.88452923G>C , CM000676.1:g.88452923G>C	GRCh37
NC_000014.7:g.87522676G>C	NCBI36
NG_011853.2:g.11985C>G
NG_011853.3:g.11985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.352C>G MANE Select	ENSP00000261304.2:p.His118Asp
ENST00000261304.6:c.352C>G	ENSP00000261304.2:p.His118Asp
ENST00000393568.8:c.283C>G	ENSP00000377198.4:p.His95Asp
ENST00000393569.6:c.274C>G	ENSP00000377199.2:p.His92Asp
ENST00000474294.6:n.342C>G
ENST00000544807.6:c.184C>G	ENSP00000437513.2:p.His62Asp
ENST00000554372.5:c.*101C>G	ENSP00000451884.1:n.*101C>G
ENST00000554916.5:n.231C>G
ENST00000556261.5:n.53C>G
ENST00000556879.5:c.412C>G	ENSP00000452208.1:n.412C>G
ENST00000557316.5:c.352C>G	ENSP00000452314.1:p.His118Asp
ENST00000622264.4:c.342C>G
NM_000153.3:c.352C>G	NP_000144.2:p.His118Asp
NM_001201401.1:c.283C>G	NP_001188330.1:p.His95Asp
NM_001201402.1:c.274C>G	NP_001188331.1:p.His92Asp
XM_011536618.1:c.184C>G	XP_011534920.1:p.His62Asp
XM_011536618.2:c.184C>G	XP_011534920.1:p.His62Asp
NM_000153.4:c.352C>G MANE Select	NP_000144.2:p.His118Asp
NM_001201401.2:c.283C>G	NP_001188330.1:p.His95Asp
NM_001201402.2:c.274C>G	NP_001188331.1:p.His92Asp