Canonical Allele Identifier: CA732714639

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231277880A>G , CM000663.2:g.231277880A>G	GRCh38
NC_000001.10:g.231413626A>G , CM000663.1:g.231413626A>G	GRCh37
NC_000001.9:g.229480249A>G	NCBI36
NG_008240.1:g.41708A>G
NG_008240.2:g.41708A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.*338A>G MANE Select	NP_055051.1:n.*338A>G
ENST00000366647.9:c.*338A>G MANE Select	ENSP00000355607.4:n.*338A>G
NM_001316350.1:c.*338A>G	NP_001303279.1:n.*338A>G
NM_001316350.2:c.*338A>G	NP_001303279.1:n.*338A>G
NM_014236.3:c.*338A>G	NP_055051.1:n.*338A>G
ENST00000366647.8:c.*338A>G	ENSP00000355607.4:n.*338A>G
ENST00000644483.1:c.*2067A>G	ENSP00000496537.1:n.*2067A>G
XM_005273313.3:c.*338A>G	XP_005273370.1:n.*338A>G
XM_011544303.1:c.*338A>G	XP_011542605.1:n.*338A>G
XM_011544304.1:c.*338A>G	XP_011542606.1:n.*338A>G