Canonical Allele Identifier: CA423902649

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401166G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265420G>C , CM000663.2:g.231265420G>C	GRCh38
NC_000001.10:g.231401166G>C , CM000663.1:g.231401166G>C	GRCh37
NC_000001.9:g.229467789G>C	NCBI36
NG_008240.1:g.29248G>C
NG_008240.2:g.29248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.696G>C MANE Select	ENSP00000355607.4:p.Arg232=
ENST00000644483.1:c.*382G>C	ENSP00000496537.1:n.*382G>C
ENST00000366647.8:c.696G>C	ENSP00000355607.4:p.Arg232=
ENST00000416000.1:c.666G>C	ENSP00000411640.1:p.Arg222=
ENST00000436239.5:c.513G>C	ENSP00000402811.1:p.Arg171=
NM_001316350.1:c.513G>C	NP_001303279.1:p.Arg171=
NM_014236.3:c.696G>C	NP_055051.1:p.Arg232=
XM_005273313.3:c.693G>C	XP_005273370.1:p.Arg231=
XM_011544303.1:c.369G>C	XP_011542605.1:p.Arg123=
XM_011544304.1:c.369G>C	XP_011542606.1:p.Arg123=
XM_005273313.4:c.693G>C	XP_005273370.1:p.Arg231=
XM_011544303.3:c.369G>C	XP_011542605.1:p.Arg123=
XM_011544304.2:c.369G>C	XP_011542606.1:p.Arg123=
NM_014236.4:c.696G>C MANE Select	NP_055051.1:p.Arg232=
NM_001316350.2:c.513G>C	NP_001303279.1:p.Arg171=