Canonical Allele Identifier: CA1226898727

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265361T= , CM000663.2:g.231265361T=	GRCh38
NC_000001.10:g.231401107T= , CM000663.1:g.231401107T=	GRCh37
NC_000001.9:g.229467730T=	NCBI36
NG_008240.1:g.29189T=
NG_008240.2:g.29189T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.637T= MANE Select	ENSP00000355607.4:p.Phe213=
ENST00000644483.1:c.*323T=	ENSP00000496537.1:n.*323T=
ENST00000366647.8:c.637T=	ENSP00000355607.4:p.Phe213=
ENST00000416000.1:c.607T=	ENSP00000411640.1:p.Phe203=
ENST00000436239.5:c.454T=	ENSP00000402811.1:p.Phe152=
NM_001316350.1:c.454T=	NP_001303279.1:p.Phe152=
NM_014236.3:c.637T=	NP_055051.1:p.Phe213=
XM_005273313.3:c.634T=	XP_005273370.1:p.Phe212=
XM_011544303.1:c.310T=	XP_011542605.1:p.Phe104=
XM_011544304.1:c.310T=	XP_011542606.1:p.Phe104=
XM_005273313.4:c.634T=	XP_005273370.1:p.Phe212=
XM_011544303.3:c.310T=	XP_011542605.1:p.Phe104=
XM_011544304.2:c.310T=	XP_011542606.1:p.Phe104=
NM_014236.4:c.637T= MANE Select	NP_055051.1:p.Phe213=
NM_001316350.2:c.454T=	NP_001303279.1:p.Phe152=