Canonical Allele Identifier: CA390747987

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968419T>C , CM000676.2:g.87968419T>C	GRCh38
NC_000014.8:g.88434763T>C , CM000676.1:g.88434763T>C	GRCh37
NC_000014.7:g.87504516T>C	NCBI36
NG_011853.2:g.30145A>G
NG_011853.3:g.30145A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.824A>G MANE Select	NP_000144.2:p.Asp275Gly
ENST00000261304.7:c.824A>G MANE Select	ENSP00000261304.2:p.Asp275Gly
NM_000153.3:c.824A>G	NP_000144.2:p.Asp275Gly
NM_001201401.1:c.755A>G	NP_001188330.1:p.Asp252Gly
NM_001201401.2:c.755A>G	NP_001188330.1:p.Asp252Gly
NM_001201402.1:c.746A>G	NP_001188331.1:p.Asp249Gly
NM_001201402.2:c.746A>G	NP_001188331.1:p.Asp249Gly
ENST00000261304.6:c.824A>G	ENSP00000261304.2:p.Asp275Gly
ENST00000393568.8:c.755A>G	ENSP00000377198.4:p.Asp252Gly
ENST00000393569.6:c.746A>G	ENSP00000377199.2:p.Asp249Gly
ENST00000474294.6:n.814A>G
ENST00000477716.3:n.579A>G
ENST00000544807.6:c.656A>G	ENSP00000437513.2:p.Asp219Gly
ENST00000555000.5:c.191A>G	ENSP00000450472.1:p.Asp64Gly
ENST00000557316.5:c.*222A>G	ENSP00000452314.1:n.*222A>G
ENST00000622264.4:c.814A>G
XM_011536618.1:c.656A>G	XP_011534920.1:p.Asp219Gly
XM_011536618.2:c.656A>G	XP_011534920.1:p.Asp219Gly