Canonical Allele Identifier: CA345239788

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231275235C>A , CM000663.2:g.231275235C>A	GRCh38
NC_000001.10:g.231410981C>A , CM000663.1:g.231410981C>A	GRCh37
NC_000001.9:g.229477604C>A	NCBI36
NG_008240.1:g.39063C>A
NG_008240.2:g.39063C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1758C>A MANE Select	NP_055051.1:p.Tyr586Ter
ENST00000366647.9:c.1758C>A MANE Select	ENSP00000355607.4:p.Tyr586Ter
NM_001316350.1:c.1575C>A	NP_001303279.1:p.Tyr525Ter
NM_001316350.2:c.1575C>A	NP_001303279.1:p.Tyr525Ter
NM_014236.3:c.1758C>A	NP_055051.1:p.Tyr586Ter
ENST00000366647.8:c.1758C>A	ENSP00000355607.4:p.Tyr586Ter
ENST00000416000.1:c.1728C>A	ENSP00000411640.1:p.Tyr576Ter
ENST00000469332.1:n.340C>A
ENST00000644483.1:c.*1444C>A	ENSP00000496537.1:n.*1444C>A
XM_005273313.3:c.1755C>A	XP_005273370.1:p.Tyr585Ter
XM_005273313.4:c.1755C>A	XP_005273370.1:p.Tyr585Ter
XM_011544303.1:c.1431C>A	XP_011542605.1:p.Tyr477Ter
XM_011544303.3:c.1431C>A	XP_011542605.1:p.Tyr477Ter
XM_011544304.1:c.1431C>A	XP_011542606.1:p.Tyr477Ter
XM_011544304.2:c.1431C>A	XP_011542606.1:p.Tyr477Ter