Canonical Allele Identifier: CA2153346433

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968340C= , CM000676.2:g.87968340C=	GRCh38
NC_000014.8:g.88434684C= , CM000676.1:g.88434684C=	GRCh37
NC_000014.7:g.87504437C=	NCBI36
NG_011853.2:g.30224G=
NG_011853.3:g.30224G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.903G= MANE Select	ENSP00000261304.2:p.Met301=
ENST00000261304.6:c.903G=	ENSP00000261304.2:p.Met301=
ENST00000393568.8:c.834G=	ENSP00000377198.4:p.Met278=
ENST00000393569.6:c.825G=	ENSP00000377199.2:p.Met275=
ENST00000474294.6:n.893G=
ENST00000544807.6:c.735G=	ENSP00000437513.2:p.Met245=
ENST00000555000.5:c.270G=	ENSP00000450472.1:p.Met90=
ENST00000557316.5:c.*301G=	ENSP00000452314.1:n.*301G=
ENST00000622264.4:c.893G=
NM_000153.3:c.903G=	NP_000144.2:p.Met301=
NM_001201401.1:c.834G=	NP_001188330.1:p.Met278=
NM_001201402.1:c.825G=	NP_001188331.1:p.Met275=
XM_011536618.1:c.735G=	XP_011534920.1:p.Met245=
XM_011536618.2:c.735G=	XP_011534920.1:p.Met245=
NM_000153.4:c.903G= MANE Select	NP_000144.2:p.Met301=
NM_001201401.2:c.834G=	NP_001188330.1:p.Met278=
NM_001201402.2:c.825G=	NP_001188331.1:p.Met275=