Canonical Allele Identifier: CA1451994

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 296123
• ClinVar RCV Id: RCV000326665 ; RCV003765731
• dbSNP Id: rs776118687
• ExAC: 1:231406496 G / A
• gnomAD v2: 1-231406496-G-A
• gnomAD v4: 1-231270750-G-A
• MyVariant Identifiers: chr1:g.231406496G>A (hg19) ; chr1:g.231270750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231270750G>A , CM000663.2:g.231270750G>A	GRCh38
NC_000001.10:g.231406496G>A , CM000663.1:g.231406496G>A	GRCh37
NC_000001.9:g.229473119G>A	NCBI36
NG_008240.1:g.34578G>A
NG_008240.2:g.34578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1280-8G>A MANE Select	ENSP00000355607.4:n.1280-8G>A
ENST00000644483.1:c.*966-8G>A	ENSP00000496537.1:n.*966-8G>A
ENST00000366647.8:c.1280-8G>A	ENSP00000355607.4:n.1280-8G>A
ENST00000416000.1:c.1250-8G>A	ENSP00000411640.1:n.1250-8G>A
NM_001316350.1:c.1097-8G>A	NP_001303279.1:n.1097-8G>A
NM_014236.3:c.1280-8G>A	NP_055051.1:n.1280-8G>A
XM_005273313.3:c.1277-8G>A	XP_005273370.1:n.1277-8G>A
XM_011544303.1:c.953-8G>A	XP_011542605.1:n.953-8G>A
XM_011544304.1:c.953-8G>A	XP_011542606.1:n.953-8G>A
XM_005273313.4:c.1277-8G>A	XP_005273370.1:n.1277-8G>A
XM_011544303.3:c.953-8G>A	XP_011542605.1:n.953-8G>A
XM_011544304.2:c.953-8G>A	XP_011542606.1:n.953-8G>A
NM_014236.4:c.1280-8G>A MANE Select	NP_055051.1:n.1280-8G>A
NM_001316350.2:c.1097-8G>A	NP_001303279.1:n.1097-8G>A