Canonical Allele Identifier: CA345233090

Gene: GNPAT

Linked Data

• dbSNP Id: rs1194924310
• gnomAD v2: 1-231401063-G-A
• gnomAD v4: 1-231265317-G-A
• MyVariant Identifiers: chr1:g.231401063G>A (hg19) ; chr1:g.231265317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265317G>A , CM000663.2:g.231265317G>A	GRCh38
NC_000001.10:g.231401063G>A , CM000663.1:g.231401063G>A	GRCh37
NC_000001.9:g.229467686G>A	NCBI36
NG_008240.1:g.29145G>A
NG_008240.2:g.29145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.593G>A MANE Select	ENSP00000355607.4:p.Gly198Asp
ENST00000644483.1:c.*279G>A	ENSP00000496537.1:n.*279G>A
ENST00000366647.8:c.593G>A	ENSP00000355607.4:p.Gly198Asp
ENST00000416000.1:c.563G>A	ENSP00000411640.1:p.Gly188Asp
ENST00000436239.5:c.410G>A	ENSP00000402811.1:p.Gly137Asp
NM_001316350.1:c.410G>A	NP_001303279.1:p.Gly137Asp
NM_014236.3:c.593G>A	NP_055051.1:p.Gly198Asp
XM_005273313.3:c.590G>A	XP_005273370.1:p.Gly197Asp
XM_011544303.1:c.266G>A	XP_011542605.1:p.Gly89Asp
XM_011544304.1:c.266G>A	XP_011542606.1:p.Gly89Asp
XM_005273313.4:c.590G>A	XP_005273370.1:p.Gly197Asp
XM_011544303.3:c.266G>A	XP_011542605.1:p.Gly89Asp
XM_011544304.2:c.266G>A	XP_011542606.1:p.Gly89Asp
NM_014236.4:c.593G>A MANE Select	NP_055051.1:p.Gly198Asp
NM_001316350.2:c.410G>A	NP_001303279.1:p.Gly137Asp