Canonical Allele Identifier: CA390752472

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986528T>A , CM000676.2:g.87986528T>A	GRCh38
NC_000014.8:g.88452872T>A , CM000676.1:g.88452872T>A	GRCh37
NC_000014.7:g.87522625T>A	NCBI36
NG_011853.2:g.12036A>T
NG_011853.3:g.12036A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.403A>T MANE Select	NP_000144.2:p.Lys135Ter
ENST00000261304.7:c.403A>T MANE Select	ENSP00000261304.2:p.Lys135Ter
NM_000153.3:c.403A>T	NP_000144.2:p.Lys135Ter
NM_001201401.1:c.334A>T	NP_001188330.1:p.Lys112Ter
NM_001201401.2:c.334A>T	NP_001188330.1:p.Lys112Ter
NM_001201402.1:c.325A>T	NP_001188331.1:p.Lys109Ter
NM_001201402.2:c.325A>T	NP_001188331.1:p.Lys109Ter
ENST00000261304.6:c.403A>T	ENSP00000261304.2:p.Lys135Ter
ENST00000393568.8:c.334A>T	ENSP00000377198.4:p.Lys112Ter
ENST00000393569.6:c.325A>T	ENSP00000377199.2:p.Lys109Ter
ENST00000474294.6:n.393A>T
ENST00000544807.6:c.235A>T	ENSP00000437513.2:p.Lys79Ter
ENST00000554372.5:c.*152A>T	ENSP00000451884.1:n.*152A>T
ENST00000554916.5:n.282A>T
ENST00000556261.5:n.104A>T
ENST00000556879.5:c.463A>T	ENSP00000452208.1:n.463A>T
ENST00000557316.5:c.403A>T	ENSP00000452314.1:p.Lys135Ter
ENST00000622264.4:c.393A>T
XM_011536618.1:c.235A>T	XP_011534920.1:p.Lys79Ter
XM_011536618.2:c.235A>T	XP_011534920.1:p.Lys79Ter