Canonical Allele Identifier: CA1451845

Gene: GNPAT

Linked Data

• dbSNP Id: rs764124617
• ExAC: 1:231401128 T / G
• gnomAD v2: 1-231401128-T-G
• MyVariant Identifiers: chr1:g.231401128T>G (hg19) ; chr1:g.231265382T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265382T>G , CM000663.2:g.231265382T>G	GRCh38
NC_000001.10:g.231401128T>G , CM000663.1:g.231401128T>G	GRCh37
NC_000001.9:g.229467751T>G	NCBI36
NG_008240.1:g.29210T>G
NG_008240.2:g.29210T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.658T>G MANE Select	ENSP00000355607.4:p.Trp220Gly
ENST00000644483.1:c.*344T>G	ENSP00000496537.1:n.*344T>G
ENST00000366647.8:c.658T>G	ENSP00000355607.4:p.Trp220Gly
ENST00000416000.1:c.628T>G	ENSP00000411640.1:p.Trp210Gly
ENST00000436239.5:c.475T>G	ENSP00000402811.1:p.Trp159Gly
NM_001316350.1:c.475T>G	NP_001303279.1:p.Trp159Gly
NM_014236.3:c.658T>G	NP_055051.1:p.Trp220Gly
XM_005273313.3:c.655T>G	XP_005273370.1:p.Trp219Gly
XM_011544303.1:c.331T>G	XP_011542605.1:p.Trp111Gly
XM_011544304.1:c.331T>G	XP_011542606.1:p.Trp111Gly
XM_005273313.4:c.655T>G	XP_005273370.1:p.Trp219Gly
XM_011544303.3:c.331T>G	XP_011542605.1:p.Trp111Gly
XM_011544304.2:c.331T>G	XP_011542606.1:p.Trp111Gly
NM_014236.4:c.658T>G MANE Select	NP_055051.1:p.Trp220Gly
NM_001316350.2:c.475T>G	NP_001303279.1:p.Trp159Gly