Canonical Allele Identifier: CA1452033

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231270960A>G , CM000663.2:g.231270960A>G	GRCh38
NC_000001.10:g.231406706A>G , CM000663.1:g.231406706A>G	GRCh37
NC_000001.9:g.229473329A>G	NCBI36
NG_008240.1:g.34788A>G
NG_008240.2:g.34788A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1482A>G MANE Select	NP_055051.1:p.Leu494=
ENST00000366647.9:c.1482A>G MANE Select	ENSP00000355607.4:p.Leu494=
NM_001316350.1:c.1299A>G	NP_001303279.1:p.Leu433=
NM_001316350.2:c.1299A>G	NP_001303279.1:p.Leu433=
NM_014236.3:c.1482A>G	NP_055051.1:p.Leu494=
ENST00000366647.8:c.1482A>G	ENSP00000355607.4:p.Leu494=
ENST00000416000.1:c.1452A>G	ENSP00000411640.1:p.Leu484=
ENST00000644483.1:c.*1168A>G	ENSP00000496537.1:n.*1168A>G
XM_005273313.3:c.1479A>G	XP_005273370.1:p.Leu493=
XM_005273313.4:c.1479A>G	XP_005273370.1:p.Leu493=
XM_011544303.1:c.1155A>G	XP_011542605.1:p.Leu385=
XM_011544303.3:c.1155A>G	XP_011542605.1:p.Leu385=
XM_011544304.1:c.1155A>G	XP_011542606.1:p.Leu385=
XM_011544304.2:c.1155A>G	XP_011542606.1:p.Leu385=