Canonical Allele Identifier: CA390751710

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984471G>A , CM000676.2:g.87984471G>A	GRCh38
NC_000014.8:g.88450815G>A , CM000676.1:g.88450815G>A	GRCh37
NC_000014.7:g.87520568G>A	NCBI36
NG_011853.2:g.14093C>T
NG_011853.3:g.14093C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.505C>T MANE Select	NP_000144.2:p.Gln169Ter
ENST00000261304.7:c.505C>T MANE Select	ENSP00000261304.2:p.Gln169Ter
NM_000153.3:c.505C>T	NP_000144.2:p.Gln169Ter
NM_001201401.1:c.436C>T	NP_001188330.1:p.Gln146Ter
NM_001201401.2:c.436C>T	NP_001188330.1:p.Gln146Ter
NM_001201402.1:c.427C>T	NP_001188331.1:p.Gln143Ter
NM_001201402.2:c.427C>T	NP_001188331.1:p.Gln143Ter
ENST00000261304.6:c.505C>T	ENSP00000261304.2:p.Gln169Ter
ENST00000393568.8:c.436C>T	ENSP00000377198.4:p.Gln146Ter
ENST00000393569.6:c.427C>T	ENSP00000377199.2:p.Gln143Ter
ENST00000474294.6:n.495C>T
ENST00000544807.6:c.337C>T	ENSP00000437513.2:p.Gln113Ter
ENST00000554372.5:c.*254C>T	ENSP00000451884.1:n.*254C>T
ENST00000554916.5:n.384C>T
ENST00000556261.5:n.206C>T
ENST00000556879.5:c.565C>T	ENSP00000452208.1:n.565C>T
ENST00000557316.5:c.505C>T	ENSP00000452314.1:p.Gln169Ter
ENST00000622264.4:c.495C>T
XM_011536618.1:c.337C>T	XP_011534920.1:p.Gln113Ter
XM_011536618.2:c.337C>T	XP_011534920.1:p.Gln113Ter