Canonical Allele Identifier: CA2153356541

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945593C= , CM000676.2:g.87945593C=	GRCh38
NC_000014.8:g.88411937C= , CM000676.1:g.88411937C=	GRCh37
NC_000014.7:g.87481690C=	NCBI36
NG_011853.2:g.52971G=
NG_011853.3:g.52971G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1630G= MANE Select	NP_000144.2:p.Asp544=
ENST00000261304.7:c.1630G= MANE Select	ENSP00000261304.2:p.Asp544=
NM_000153.3:c.1630G=	NP_000144.2:p.Asp544=
NM_001201401.1:c.1561G=	NP_001188330.1:p.Asp521=
NM_001201401.2:c.1561G=	NP_001188330.1:p.Asp521=
NM_001201402.1:c.1552G=	NP_001188331.1:p.Asp518=
NM_001201402.2:c.1552G=	NP_001188331.1:p.Asp518=
ENST00000261304.6:c.1630G=	ENSP00000261304.2:p.Asp544=
ENST00000393568.8:c.1561G=	ENSP00000377198.4:p.Asp521=
ENST00000393569.6:c.1552G=	ENSP00000377199.2:p.Asp518=
ENST00000544807.6:c.1462G=	ENSP00000437513.2:p.Asp488=
ENST00000555000.5:c.997G=	ENSP00000450472.1:p.Asp333=
ENST00000555179.1:c.206+2135G=
ENST00000557316.5:c.*1028G=	ENSP00000452314.1:n.*1028G=
XM_011536618.1:c.1462G=	XP_011534920.1:p.Asp488=
XM_011536618.2:c.1462G=	XP_011534920.1:p.Asp488=