Canonical Allele Identifier: CA1226898706

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265294C= , CM000663.2:g.231265294C=	GRCh38
NC_000001.10:g.231401040C= , CM000663.1:g.231401040C=	GRCh37
NC_000001.9:g.229467663C=	NCBI36
NG_008240.1:g.29122C=
NG_008240.2:g.29122C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.570C= MANE Select	ENSP00000355607.4:p.Asp190=
ENST00000644483.1:c.*256C=	ENSP00000496537.1:n.*256C=
ENST00000366647.8:c.570C=	ENSP00000355607.4:p.Asp190=
ENST00000416000.1:c.540C=	ENSP00000411640.1:p.Asp180=
ENST00000436239.5:c.387C=	ENSP00000402811.1:p.Asp129=
NM_001316350.1:c.387C=	NP_001303279.1:p.Asp129=
NM_014236.3:c.570C=	NP_055051.1:p.Asp190=
XM_005273313.3:c.567C=	XP_005273370.1:p.Asp189=
XM_011544303.1:c.243C=	XP_011542605.1:p.Asp81=
XM_011544304.1:c.243C=	XP_011542606.1:p.Asp81=
XM_005273313.4:c.567C=	XP_005273370.1:p.Asp189=
XM_011544303.3:c.243C=	XP_011542605.1:p.Asp81=
XM_011544304.2:c.243C=	XP_011542606.1:p.Asp81=
NM_014236.4:c.570C= MANE Select	NP_055051.1:p.Asp190=
NM_001316350.2:c.387C=	NP_001303279.1:p.Asp129=