Canonical Allele Identifier: CA390746833

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949907A>C , CM000676.2:g.87949907A>C	GRCh38
NC_000014.8:g.88416251A>C , CM000676.1:g.88416251A>C	GRCh37
NC_000014.7:g.87486004A>C	NCBI36
NG_011853.2:g.48657T>G
NG_011853.3:g.48657T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1276T>G MANE Select	NP_000144.2:p.Trp426Gly
ENST00000261304.7:c.1276T>G MANE Select	ENSP00000261304.2:p.Trp426Gly
NM_000153.3:c.1276T>G	NP_000144.2:p.Trp426Gly
NM_001201401.1:c.1207T>G	NP_001188330.1:p.Trp403Gly
NM_001201401.2:c.1207T>G	NP_001188330.1:p.Trp403Gly
NM_001201402.1:c.1198T>G	NP_001188331.1:p.Trp400Gly
NM_001201402.2:c.1198T>G	NP_001188331.1:p.Trp400Gly
ENST00000261304.6:c.1276T>G	ENSP00000261304.2:p.Trp426Gly
ENST00000393568.8:c.1207T>G	ENSP00000377198.4:p.Trp403Gly
ENST00000393569.6:c.1198T>G	ENSP00000377199.2:p.Trp400Gly
ENST00000544807.6:c.1108T>G	ENSP00000437513.2:p.Trp370Gly
ENST00000555000.5:c.643T>G	ENSP00000450472.1:p.Trp215Gly
ENST00000557316.5:c.*674T>G	ENSP00000452314.1:n.*674T>G
XM_011536618.1:c.1108T>G	XP_011534920.1:p.Trp370Gly
XM_011536618.2:c.1108T>G	XP_011534920.1:p.Trp370Gly