Canonical Allele Identifier: CA390747565

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965581A>T , CM000676.2:g.87965581A>T	GRCh38
NC_000014.8:g.88431925A>T , CM000676.1:g.88431925A>T	GRCh37
NC_000014.7:g.87501678A>T	NCBI36
NG_011853.2:g.32983T>A
NG_011853.3:g.32983T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.957T>A MANE Select	NP_000144.2:p.Tyr319Ter
ENST00000261304.7:c.957T>A MANE Select	ENSP00000261304.2:p.Tyr319Ter
NM_000153.3:c.957T>A	NP_000144.2:p.Tyr319Ter
NM_001201401.1:c.888T>A	NP_001188330.1:p.Tyr296Ter
NM_001201401.2:c.888T>A	NP_001188330.1:p.Tyr296Ter
NM_001201402.1:c.879T>A	NP_001188331.1:p.Tyr293Ter
NM_001201402.2:c.879T>A	NP_001188331.1:p.Tyr293Ter
ENST00000261304.6:c.957T>A	ENSP00000261304.2:p.Tyr319Ter
ENST00000393568.8:c.888T>A	ENSP00000377198.4:p.Tyr296Ter
ENST00000393569.6:c.879T>A	ENSP00000377199.2:p.Tyr293Ter
ENST00000474294.6:n.947T>A
ENST00000544807.6:c.789T>A	ENSP00000437513.2:p.Tyr263Ter
ENST00000555000.5:c.324T>A	ENSP00000450472.1:p.Tyr108Ter
ENST00000557316.5:c.*355T>A	ENSP00000452314.1:n.*355T>A
ENST00000557520.1:n.43T>A
ENST00000622264.4:c.947T>A
XM_011536618.1:c.789T>A	XP_011534920.1:p.Tyr263Ter
XM_011536618.2:c.789T>A	XP_011534920.1:p.Tyr263Ter