Canonical Allele Identifier: CA390749454

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442751C>G (hg19) ; chr14:g.87976407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976407C>G , CM000676.2:g.87976407C>G	GRCh38
NC_000014.8:g.88442751C>G , CM000676.1:g.88442751C>G	GRCh37
NC_000014.7:g.87512504C>G	NCBI36
NG_011853.2:g.22157G>C
NG_011853.3:g.22157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.703G>C MANE Select	ENSP00000261304.2:p.Ala235Pro
ENST00000261304.6:c.703G>C	ENSP00000261304.2:p.Ala235Pro
ENST00000393568.8:c.634G>C	ENSP00000377198.4:p.Ala212Pro
ENST00000393569.6:c.625G>C	ENSP00000377199.2:p.Ala209Pro
ENST00000474294.6:n.693G>C
ENST00000477716.3:n.458G>C
ENST00000544807.6:c.535G>C	ENSP00000437513.2:p.Ala179Pro
ENST00000554916.5:n.582G>C
ENST00000555000.5:c.70G>C	ENSP00000450472.1:p.Ala24Pro
ENST00000557316.5:c.*101G>C	ENSP00000452314.1:n.*101G>C
ENST00000622264.4:c.693G>C
NM_000153.3:c.703G>C	NP_000144.2:p.Ala235Pro
NM_001201401.1:c.634G>C	NP_001188330.1:p.Ala212Pro
NM_001201402.1:c.625G>C	NP_001188331.1:p.Ala209Pro
XM_011536618.1:c.535G>C	XP_011534920.1:p.Ala179Pro
XM_011536618.2:c.535G>C	XP_011534920.1:p.Ala179Pro
NM_000153.4:c.703G>C MANE Select	NP_000144.2:p.Ala235Pro
NM_001201401.2:c.634G>C	NP_001188330.1:p.Ala212Pro
NM_001201402.2:c.625G>C	NP_001188331.1:p.Ala209Pro