Canonical Allele Identifier: CA1452157

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231275451C>T , CM000663.2:g.231275451C>T	GRCh38
NC_000001.10:g.231411197C>T , CM000663.1:g.231411197C>T	GRCh37
NC_000001.9:g.229477820C>T	NCBI36
NG_008240.1:g.39279C>T
NG_008240.2:g.39279C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1890C>T MANE Select	NP_055051.1:p.Asn630=
ENST00000366647.9:c.1890C>T MANE Select	ENSP00000355607.4:p.Asn630=
NM_001316350.1:c.1707C>T	NP_001303279.1:p.Asn569=
NM_001316350.2:c.1707C>T	NP_001303279.1:p.Asn569=
NM_014236.3:c.1890C>T	NP_055051.1:p.Asn630=
ENST00000366647.8:c.1890C>T	ENSP00000355607.4:p.Asn630=
ENST00000469332.1:n.472C>T
ENST00000644483.1:c.*1576C>T	ENSP00000496537.1:n.*1576C>T
XM_005273313.3:c.1887C>T	XP_005273370.1:p.Asn629=
XM_005273313.4:c.1887C>T	XP_005273370.1:p.Asn629=
XM_011544303.1:c.1563C>T	XP_011542605.1:p.Asn521=
XM_011544303.3:c.1563C>T	XP_011542605.1:p.Asn521=
XM_011544304.1:c.1563C>T	XP_011542606.1:p.Asn521=
XM_011544304.2:c.1563C>T	XP_011542606.1:p.Asn521=