Canonical Allele Identifier: CA423902558

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401145A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265399A>G , CM000663.2:g.231265399A>G	GRCh38
NC_000001.10:g.231401145A>G , CM000663.1:g.231401145A>G	GRCh37
NC_000001.9:g.229467768A>G	NCBI36
NG_008240.1:g.29227A>G
NG_008240.2:g.29227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.675A>G MANE Select	ENSP00000355607.4:p.Glu225=
ENST00000644483.1:c.*361A>G	ENSP00000496537.1:n.*361A>G
ENST00000366647.8:c.675A>G	ENSP00000355607.4:p.Glu225=
ENST00000416000.1:c.645A>G	ENSP00000411640.1:p.Glu215=
ENST00000436239.5:c.492A>G	ENSP00000402811.1:p.Glu164=
NM_001316350.1:c.492A>G	NP_001303279.1:p.Glu164=
NM_014236.3:c.675A>G	NP_055051.1:p.Glu225=
XM_005273313.3:c.672A>G	XP_005273370.1:p.Glu224=
XM_011544303.1:c.348A>G	XP_011542605.1:p.Glu116=
XM_011544304.1:c.348A>G	XP_011542606.1:p.Glu116=
XM_005273313.4:c.672A>G	XP_005273370.1:p.Glu224=
XM_011544303.3:c.348A>G	XP_011542605.1:p.Glu116=
XM_011544304.2:c.348A>G	XP_011542606.1:p.Glu116=
NM_014236.4:c.675A>G MANE Select	NP_055051.1:p.Glu225=
NM_001316350.2:c.492A>G	NP_001303279.1:p.Glu164=