Canonical Allele Identifier: CA913186009

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231275503G>A , CM000663.2:g.231275503G>A	GRCh38
NC_000001.10:g.231411249G>A , CM000663.1:g.231411249G>A	GRCh37
NC_000001.9:g.229477872G>A	NCBI36
NG_008240.1:g.39331G>A
NG_008240.2:g.39331G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1937+5G>A MANE Select	NP_055051.1:n.1937+5G>A
ENST00000366647.9:c.1937+5G>A MANE Select	ENSP00000355607.4:n.1937+5G>A
NM_001316350.1:c.1754+5G>A	NP_001303279.1:n.1754+5G>A
NM_001316350.2:c.1754+5G>A	NP_001303279.1:n.1754+5G>A
NM_014236.3:c.1937+5G>A	NP_055051.1:n.1937+5G>A
ENST00000366647.8:c.1937+5G>A	ENSP00000355607.4:n.1937+5G>A
ENST00000469332.1:n.519+5G>A
ENST00000644483.1:c.*1623+5G>A	ENSP00000496537.1:n.*1623+5G>A
XM_005273313.3:c.1934+5G>A	XP_005273370.1:n.1934+5G>A
XM_005273313.4:c.1934+5G>A	XP_005273370.1:n.1934+5G>A
XM_011544303.1:c.1610+5G>A	XP_011542605.1:n.1610+5G>A
XM_011544303.3:c.1610+5G>A	XP_011542605.1:n.1610+5G>A
XM_011544304.1:c.1610+5G>A	XP_011542606.1:n.1610+5G>A
XM_011544304.2:c.1610+5G>A	XP_011542606.1:n.1610+5G>A