Canonical Allele Identifier: CA390747314

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963477A>C , CM000676.2:g.87963477A>C	GRCh38
NC_000014.8:g.88429821A>C , CM000676.1:g.88429821A>C	GRCh37
NC_000014.7:g.87499574A>C	NCBI36
NG_011853.2:g.35087T>G
NG_011853.3:g.35087T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1068T>G MANE Select	NP_000144.2:p.Tyr356Ter
ENST00000261304.7:c.1068T>G MANE Select	ENSP00000261304.2:p.Tyr356Ter
NM_000153.3:c.1068T>G	NP_000144.2:p.Tyr356Ter
NM_001201401.1:c.999T>G	NP_001188330.1:p.Tyr333Ter
NM_001201401.2:c.999T>G	NP_001188330.1:p.Tyr333Ter
NM_001201402.1:c.990T>G	NP_001188331.1:p.Tyr330Ter
NM_001201402.2:c.990T>G	NP_001188331.1:p.Tyr330Ter
ENST00000261304.6:c.1068T>G	ENSP00000261304.2:p.Tyr356Ter
ENST00000393568.8:c.999T>G	ENSP00000377198.4:p.Tyr333Ter
ENST00000393569.6:c.990T>G	ENSP00000377199.2:p.Tyr330Ter
ENST00000474294.6:n.1058T>G
ENST00000544807.6:c.900T>G	ENSP00000437513.2:p.Tyr300Ter
ENST00000555000.5:c.435T>G	ENSP00000450472.1:p.Tyr145Ter
ENST00000557316.5:c.*466T>G	ENSP00000452314.1:n.*466T>G
ENST00000557520.1:n.154T>G
ENST00000622264.4:c.1058T>G
XM_011536618.1:c.900T>G	XP_011534920.1:p.Tyr300Ter
XM_011536618.2:c.900T>G	XP_011534920.1:p.Tyr300Ter