Canonical Allele Identifier: CA345230093

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231251062T>A , CM000663.2:g.231251062T>A	GRCh38
NC_000001.10:g.231386808T>A , CM000663.1:g.231386808T>A	GRCh37
NC_000001.9:g.229453431T>A	NCBI36
NG_008240.1:g.14890T>A
NG_008240.2:g.14890T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.180T>A MANE Select	NP_055051.1:p.Tyr60Ter
ENST00000366647.9:c.180T>A MANE Select	ENSP00000355607.4:p.Tyr60Ter
NM_001316350.1:c.79-9445T>A	NP_001303279.1:n.79-9445T>A
NM_001316350.2:c.79-9445T>A	NP_001303279.1:n.79-9445T>A
NM_014236.3:c.180T>A	NP_055051.1:p.Tyr60Ter
ENST00000366647.8:c.180T>A	ENSP00000355607.4:p.Tyr60Ter
ENST00000416000.1:c.180T>A	ENSP00000411640.1:p.Tyr60Ter
ENST00000436239.5:c.79-9445T>A	ENSP00000402811.1:n.79-9445T>A
ENST00000644483.1:c.180T>A	ENSP00000496537.1:p.Tyr60Ter
XM_005273313.3:c.177T>A	XP_005273370.1:p.Tyr59Ter
XM_005273313.4:c.177T>A	XP_005273370.1:p.Tyr59Ter
XM_011544303.1:c.-236T>A	XP_011542605.1:n.-236T>A
XM_011544303.3:c.-236T>A	XP_011542605.1:n.-236T>A
XM_011544304.1:c.-154-7160T>A	XP_011542606.1:n.-154-7160T>A
XM_011544304.2:c.-154-7160T>A	XP_011542606.1:n.-154-7160T>A