Canonical Allele Identifier: CA345231817

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231262726C>T , CM000663.2:g.231262726C>T	GRCh38
NC_000001.10:g.231398472C>T , CM000663.1:g.231398472C>T	GRCh37
NC_000001.9:g.229465095C>T	NCBI36
NG_008240.1:g.26554C>T
NG_008240.2:g.26554C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.442C>T MANE Select	NP_055051.1:p.Gln148Ter
ENST00000366647.9:c.442C>T MANE Select	ENSP00000355607.4:p.Gln148Ter
NM_001316350.1:c.259C>T	NP_001303279.1:p.Gln87Ter
NM_001316350.2:c.259C>T	NP_001303279.1:p.Gln87Ter
NM_014236.3:c.442C>T	NP_055051.1:p.Gln148Ter
ENST00000366647.8:c.442C>T	ENSP00000355607.4:p.Gln148Ter
ENST00000416000.1:c.412C>T	ENSP00000411640.1:p.Gln138Ter
ENST00000436239.5:c.259C>T	ENSP00000402811.1:p.Gln87Ter
ENST00000644483.1:c.*128C>T	ENSP00000496537.1:n.*128C>T
XM_005273313.3:c.439C>T	XP_005273370.1:p.Gln147Ter
XM_005273313.4:c.439C>T	XP_005273370.1:p.Gln147Ter
XM_011544303.1:c.115C>T	XP_011542605.1:p.Gln39Ter
XM_011544303.3:c.115C>T	XP_011542605.1:p.Gln39Ter
XM_011544304.1:c.115C>T	XP_011542606.1:p.Gln39Ter
XM_011544304.2:c.115C>T	XP_011542606.1:p.Gln39Ter