Canonical Allele Identifier: CA423902597

Gene: GNPAT

Linked Data

• dbSNP Id: rs1158850531
• gnomAD v2: 1-231401154-A-G
• gnomAD v4: 1-231265408-A-G
• MyVariant Identifiers: chr1:g.231401154A>G (hg19) ; chr1:g.231265408A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265408A>G , CM000663.2:g.231265408A>G	GRCh38
NC_000001.10:g.231401154A>G , CM000663.1:g.231401154A>G	GRCh37
NC_000001.9:g.229467777A>G	NCBI36
NG_008240.1:g.29236A>G
NG_008240.2:g.29236A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.684A>G MANE Select	ENSP00000355607.4:p.Lys228=
ENST00000644483.1:c.*370A>G	ENSP00000496537.1:n.*370A>G
ENST00000366647.8:c.684A>G	ENSP00000355607.4:p.Lys228=
ENST00000416000.1:c.654A>G	ENSP00000411640.1:p.Lys218=
ENST00000436239.5:c.501A>G	ENSP00000402811.1:p.Lys167=
NM_001316350.1:c.501A>G	NP_001303279.1:p.Lys167=
NM_014236.3:c.684A>G	NP_055051.1:p.Lys228=
XM_005273313.3:c.681A>G	XP_005273370.1:p.Lys227=
XM_011544303.1:c.357A>G	XP_011542605.1:p.Lys119=
XM_011544304.1:c.357A>G	XP_011542606.1:p.Lys119=
XM_005273313.4:c.681A>G	XP_005273370.1:p.Lys227=
XM_011544303.3:c.357A>G	XP_011542605.1:p.Lys119=
XM_011544304.2:c.357A>G	XP_011542606.1:p.Lys119=
NM_014236.4:c.684A>G MANE Select	NP_055051.1:p.Lys228=
NM_001316350.2:c.501A>G	NP_001303279.1:p.Lys167=