Canonical Allele Identifier: CA345232968

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401037A>G (hg19) ; chr1:g.231265291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265291A>G , CM000663.2:g.231265291A>G	GRCh38
NC_000001.10:g.231401037A>G , CM000663.1:g.231401037A>G	GRCh37
NC_000001.9:g.229467660A>G	NCBI36
NG_008240.1:g.29119A>G
NG_008240.2:g.29119A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.569-2A>G MANE Select	ENSP00000355607.4:n.569-2A>G
ENST00000644483.1:c.*255-2A>G	ENSP00000496537.1:n.*255-2A>G
ENST00000366647.8:c.569-2A>G	ENSP00000355607.4:n.569-2A>G
ENST00000416000.1:c.539-2A>G	ENSP00000411640.1:n.539-2A>G
ENST00000436239.5:c.386-2A>G	ENSP00000402811.1:n.386-2A>G
NM_001316350.1:c.386-2A>G	NP_001303279.1:n.386-2A>G
NM_014236.3:c.569-2A>G	NP_055051.1:n.569-2A>G
XM_005273313.3:c.566-2A>G	XP_005273370.1:n.566-2A>G
XM_011544303.1:c.242-2A>G	XP_011542605.1:n.242-2A>G
XM_011544304.1:c.242-2A>G	XP_011542606.1:n.242-2A>G
XM_005273313.4:c.566-2A>G	XP_005273370.1:n.566-2A>G
XM_011544303.3:c.242-2A>G	XP_011542605.1:n.242-2A>G
XM_011544304.2:c.242-2A>G	XP_011542606.1:n.242-2A>G
NM_014236.4:c.569-2A>G MANE Select	NP_055051.1:n.569-2A>G
NM_001316350.2:c.386-2A>G	NP_001303279.1:n.386-2A>G