Canonical Allele Identifier: CA1451850

Gene: GNPAT

Linked Data

• dbSNP Id: rs758785983
• ExAC: 1:231401165 G / A
• gnomAD v2: 1-231401165-G-A
• gnomAD v3: 1-231265419-G-A
• gnomAD v4: 1-231265419-G-A
• MyVariant Identifiers: chr1:g.231401165G>A (hg19) ; chr1:g.231265419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265419G>A , CM000663.2:g.231265419G>A	GRCh38
NC_000001.10:g.231401165G>A , CM000663.1:g.231401165G>A	GRCh37
NC_000001.9:g.229467788G>A	NCBI36
NG_008240.1:g.29247G>A
NG_008240.2:g.29247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.695G>A MANE Select	ENSP00000355607.4:p.Arg232Gln
ENST00000644483.1:c.*381G>A	ENSP00000496537.1:n.*381G>A
ENST00000366647.8:c.695G>A	ENSP00000355607.4:p.Arg232Gln
ENST00000416000.1:c.665G>A	ENSP00000411640.1:p.Arg222Gln
ENST00000436239.5:c.512G>A	ENSP00000402811.1:p.Arg171Gln
NM_001316350.1:c.512G>A	NP_001303279.1:p.Arg171Gln
NM_014236.3:c.695G>A	NP_055051.1:p.Arg232Gln
XM_005273313.3:c.692G>A	XP_005273370.1:p.Arg231Gln
XM_011544303.1:c.368G>A	XP_011542605.1:p.Arg123Gln
XM_011544304.1:c.368G>A	XP_011542606.1:p.Arg123Gln
XM_005273313.4:c.692G>A	XP_005273370.1:p.Arg231Gln
XM_011544303.3:c.368G>A	XP_011542605.1:p.Arg123Gln
XM_011544304.2:c.368G>A	XP_011542606.1:p.Arg123Gln
NM_014236.4:c.695G>A MANE Select	NP_055051.1:p.Arg232Gln
NM_001316350.2:c.512G>A	NP_001303279.1:p.Arg171Gln