Canonical Allele Identifier: CA2153381765

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976400A= , CM000676.2:g.87976400A=	GRCh38
NC_000014.8:g.88442744A= , CM000676.1:g.88442744A=	GRCh37
NC_000014.7:g.87512497A=	NCBI36
NG_011853.2:g.22164T=
NG_011853.3:g.22164T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.710T= MANE Select	ENSP00000261304.2:p.Met237=
ENST00000261304.6:c.710T=	ENSP00000261304.2:p.Met237=
ENST00000393568.8:c.641T=	ENSP00000377198.4:p.Met214=
ENST00000393569.6:c.632T=	ENSP00000377199.2:p.Met211=
ENST00000474294.6:n.700T=
ENST00000477716.3:n.465T=
ENST00000544807.6:c.542T=	ENSP00000437513.2:p.Met181=
ENST00000554916.5:n.589T=
ENST00000555000.5:c.77T=	ENSP00000450472.1:p.Met26=
ENST00000557316.5:c.*108T=	ENSP00000452314.1:n.*108T=
ENST00000622264.4:c.700T=
NM_000153.3:c.710T=	NP_000144.2:p.Met237=
NM_001201401.1:c.641T=	NP_001188330.1:p.Met214=
NM_001201402.1:c.632T=	NP_001188331.1:p.Met211=
XM_011536618.1:c.542T=	XP_011534920.1:p.Met181=
XM_011536618.2:c.542T=	XP_011534920.1:p.Met181=
NM_000153.4:c.710T= MANE Select	NP_000144.2:p.Met237=
NM_001201401.2:c.641T=	NP_001188330.1:p.Met214=
NM_001201402.2:c.632T=	NP_001188331.1:p.Met211=