Canonical Allele Identifier: CA345233020

Gene: GNPAT

Linked Data

• dbSNP Id: rs1685344764
• gnomAD v4: 1-231265302-G-A
• MyVariant Identifiers: chr1:g.231401048G>A (hg19) ; chr1:g.231265302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265302G>A , CM000663.2:g.231265302G>A	GRCh38
NC_000001.10:g.231401048G>A , CM000663.1:g.231401048G>A	GRCh37
NC_000001.9:g.229467671G>A	NCBI36
NG_008240.1:g.29130G>A
NG_008240.2:g.29130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.578G>A MANE Select	ENSP00000355607.4:p.Gly193Glu
ENST00000644483.1:c.*264G>A	ENSP00000496537.1:n.*264G>A
ENST00000366647.8:c.578G>A	ENSP00000355607.4:p.Gly193Glu
ENST00000416000.1:c.548G>A	ENSP00000411640.1:p.Gly183Glu
ENST00000436239.5:c.395G>A	ENSP00000402811.1:p.Gly132Glu
NM_001316350.1:c.395G>A	NP_001303279.1:p.Gly132Glu
NM_014236.3:c.578G>A	NP_055051.1:p.Gly193Glu
XM_005273313.3:c.575G>A	XP_005273370.1:p.Gly192Glu
XM_011544303.1:c.251G>A	XP_011542605.1:p.Gly84Glu
XM_011544304.1:c.251G>A	XP_011542606.1:p.Gly84Glu
XM_005273313.4:c.575G>A	XP_005273370.1:p.Gly192Glu
XM_011544303.3:c.251G>A	XP_011542605.1:p.Gly84Glu
XM_011544304.2:c.251G>A	XP_011542606.1:p.Gly84Glu
NM_014236.4:c.578G>A MANE Select	NP_055051.1:p.Gly193Glu
NM_001316350.2:c.395G>A	NP_001303279.1:p.Gly132Glu