Canonical Allele Identifier: CA390747708

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434691C>A (hg19) ; chr14:g.87968347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968347C>A , CM000676.2:g.87968347C>A	GRCh38
NC_000014.8:g.88434691C>A , CM000676.1:g.88434691C>A	GRCh37
NC_000014.7:g.87504444C>A	NCBI36
NG_011853.2:g.30217G>T
NG_011853.3:g.30217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.896G>T MANE Select	ENSP00000261304.2:p.Gly299Val
ENST00000261304.6:c.896G>T	ENSP00000261304.2:p.Gly299Val
ENST00000393568.8:c.827G>T	ENSP00000377198.4:p.Gly276Val
ENST00000393569.6:c.818G>T	ENSP00000377199.2:p.Gly273Val
ENST00000474294.6:n.886G>T
ENST00000544807.6:c.728G>T	ENSP00000437513.2:p.Gly243Val
ENST00000555000.5:c.263G>T	ENSP00000450472.1:p.Gly88Val
ENST00000557316.5:c.*294G>T	ENSP00000452314.1:n.*294G>T
ENST00000622264.4:c.886G>T
NM_000153.3:c.896G>T	NP_000144.2:p.Gly299Val
NM_001201401.1:c.827G>T	NP_001188330.1:p.Gly276Val
NM_001201402.1:c.818G>T	NP_001188331.1:p.Gly273Val
XM_011536618.1:c.728G>T	XP_011534920.1:p.Gly243Val
XM_011536618.2:c.728G>T	XP_011534920.1:p.Gly243Val
NM_000153.4:c.896G>T MANE Select	NP_000144.2:p.Gly299Val
NM_001201401.2:c.827G>T	NP_001188330.1:p.Gly276Val
NM_001201402.2:c.818G>T	NP_001188331.1:p.Gly273Val