Canonical Allele Identifier: CA1226898723

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265348C= , CM000663.2:g.231265348C=	GRCh38
NC_000001.10:g.231401094C= , CM000663.1:g.231401094C=	GRCh37
NC_000001.9:g.229467717C=	NCBI36
NG_008240.1:g.29176C=
NG_008240.2:g.29176C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.624C= MANE Select	ENSP00000355607.4:p.Phe208=
ENST00000644483.1:c.*310C=	ENSP00000496537.1:n.*310C=
ENST00000366647.8:c.624C=	ENSP00000355607.4:p.Phe208=
ENST00000416000.1:c.594C=	ENSP00000411640.1:p.Phe198=
ENST00000436239.5:c.441C=	ENSP00000402811.1:p.Phe147=
NM_001316350.1:c.441C=	NP_001303279.1:p.Phe147=
NM_014236.3:c.624C=	NP_055051.1:p.Phe208=
XM_005273313.3:c.621C=	XP_005273370.1:p.Phe207=
XM_011544303.1:c.297C=	XP_011542605.1:p.Phe99=
XM_011544304.1:c.297C=	XP_011542606.1:p.Phe99=
XM_005273313.4:c.621C=	XP_005273370.1:p.Phe207=
XM_011544303.3:c.297C=	XP_011542605.1:p.Phe99=
XM_011544304.2:c.297C=	XP_011542606.1:p.Phe99=
NM_014236.4:c.624C= MANE Select	NP_055051.1:p.Phe208=
NM_001316350.2:c.441C=	NP_001303279.1:p.Phe147=