Canonical Allele Identifier: CA2153346448

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968381A= , CM000676.2:g.87968381A=	GRCh38
NC_000014.8:g.88434725A= , CM000676.1:g.88434725A=	GRCh37
NC_000014.7:g.87504478A=	NCBI36
NG_011853.2:g.30183T=
NG_011853.3:g.30183T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.862T= MANE Select	NP_000144.2:p.Trp288=
ENST00000261304.7:c.862T= MANE Select	ENSP00000261304.2:p.Trp288=
NM_000153.3:c.862T=	NP_000144.2:p.Trp288=
NM_001201401.1:c.793T=	NP_001188330.1:p.Trp265=
NM_001201401.2:c.793T=	NP_001188330.1:p.Trp265=
NM_001201402.1:c.784T=	NP_001188331.1:p.Trp262=
NM_001201402.2:c.784T=	NP_001188331.1:p.Trp262=
ENST00000261304.6:c.862T=	ENSP00000261304.2:p.Trp288=
ENST00000393568.8:c.793T=	ENSP00000377198.4:p.Trp265=
ENST00000393569.6:c.784T=	ENSP00000377199.2:p.Trp262=
ENST00000474294.6:n.852T=
ENST00000544807.6:c.694T=	ENSP00000437513.2:p.Trp232=
ENST00000555000.5:c.229T=	ENSP00000450472.1:p.Trp77=
ENST00000557316.5:c.*260T=	ENSP00000452314.1:n.*260T=
ENST00000622264.4:c.852T=
XM_011536618.1:c.694T=	XP_011534920.1:p.Trp232=
XM_011536618.2:c.694T=	XP_011534920.1:p.Trp232=