Canonical Allele Identifier: CA390747472

Gene: GALC

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965541C>G , CM000676.2:g.87965541C>G	GRCh38
NC_000014.8:g.88431885C>G , CM000676.1:g.88431885C>G	GRCh37
NC_000014.7:g.87501638C>G	NCBI36
NG_011853.2:g.33023G>C
NG_011853.3:g.33023G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.997G>C MANE Select	ENSP00000261304.2:p.Gly333Arg
ENST00000261304.6:c.997G>C	ENSP00000261304.2:p.Gly333Arg
ENST00000393568.8:c.928G>C	ENSP00000377198.4:p.Gly310Arg
ENST00000393569.6:c.919G>C	ENSP00000377199.2:p.Gly307Arg
ENST00000474294.6:n.987G>C
ENST00000544807.6:c.829G>C	ENSP00000437513.2:p.Gly277Arg
ENST00000555000.5:c.364G>C	ENSP00000450472.1:p.Gly122Arg
ENST00000557316.5:c.*395G>C	ENSP00000452314.1:n.*395G>C
ENST00000557520.1:n.83G>C
ENST00000622264.4:c.987G>C
NM_000153.3:c.997G>C	NP_000144.2:p.Gly333Arg
NM_001201401.1:c.928G>C	NP_001188330.1:p.Gly310Arg
NM_001201402.1:c.919G>C	NP_001188331.1:p.Gly307Arg
XM_011536618.1:c.829G>C	XP_011534920.1:p.Gly277Arg
XM_011536618.2:c.829G>C	XP_011534920.1:p.Gly277Arg
NM_000153.4:c.997G>C MANE Select	NP_000144.2:p.Gly333Arg
NM_001201401.2:c.928G>C	NP_001188330.1:p.Gly310Arg
NM_001201402.2:c.919G>C	NP_001188331.1:p.Gly307Arg