Canonical Allele Identifier: CA345233431

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265404-T-A
• MyVariant Identifiers: chr1:g.231401150T>A (hg19) ; chr1:g.231265404T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265404T>A , CM000663.2:g.231265404T>A	GRCh38
NC_000001.10:g.231401150T>A , CM000663.1:g.231401150T>A	GRCh37
NC_000001.9:g.229467773T>A	NCBI36
NG_008240.1:g.29232T>A
NG_008240.2:g.29232T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.680T>A MANE Select	ENSP00000355607.4:p.Val227Glu
ENST00000644483.1:c.*366T>A	ENSP00000496537.1:n.*366T>A
ENST00000366647.8:c.680T>A	ENSP00000355607.4:p.Val227Glu
ENST00000416000.1:c.650T>A	ENSP00000411640.1:p.Val217Glu
ENST00000436239.5:c.497T>A	ENSP00000402811.1:p.Val166Glu
NM_001316350.1:c.497T>A	NP_001303279.1:p.Val166Glu
NM_014236.3:c.680T>A	NP_055051.1:p.Val227Glu
XM_005273313.3:c.677T>A	XP_005273370.1:p.Val226Glu
XM_011544303.1:c.353T>A	XP_011542605.1:p.Val118Glu
XM_011544304.1:c.353T>A	XP_011542606.1:p.Val118Glu
XM_005273313.4:c.677T>A	XP_005273370.1:p.Val226Glu
XM_011544303.3:c.353T>A	XP_011542605.1:p.Val118Glu
XM_011544304.2:c.353T>A	XP_011542606.1:p.Val118Glu
NM_014236.4:c.680T>A MANE Select	NP_055051.1:p.Val227Glu
NM_001316350.2:c.497T>A	NP_001303279.1:p.Val166Glu