Canonical Allele Identifier: CA345233214

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265348-C-G
• MyVariant Identifiers: chr1:g.231401094C>G (hg19) ; chr1:g.231265348C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265348C>G , CM000663.2:g.231265348C>G	GRCh38
NC_000001.10:g.231401094C>G , CM000663.1:g.231401094C>G	GRCh37
NC_000001.9:g.229467717C>G	NCBI36
NG_008240.1:g.29176C>G
NG_008240.2:g.29176C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.624C>G MANE Select	ENSP00000355607.4:p.Phe208Leu
ENST00000644483.1:c.*310C>G	ENSP00000496537.1:n.*310C>G
ENST00000366647.8:c.624C>G	ENSP00000355607.4:p.Phe208Leu
ENST00000416000.1:c.594C>G	ENSP00000411640.1:p.Phe198Leu
ENST00000436239.5:c.441C>G	ENSP00000402811.1:p.Phe147Leu
NM_001316350.1:c.441C>G	NP_001303279.1:p.Phe147Leu
NM_014236.3:c.624C>G	NP_055051.1:p.Phe208Leu
XM_005273313.3:c.621C>G	XP_005273370.1:p.Phe207Leu
XM_011544303.1:c.297C>G	XP_011542605.1:p.Phe99Leu
XM_011544304.1:c.297C>G	XP_011542606.1:p.Phe99Leu
XM_005273313.4:c.621C>G	XP_005273370.1:p.Phe207Leu
XM_011544303.3:c.297C>G	XP_011542605.1:p.Phe99Leu
XM_011544304.2:c.297C>G	XP_011542606.1:p.Phe99Leu
NM_014236.4:c.624C>G MANE Select	NP_055051.1:p.Phe208Leu
NM_001316350.2:c.441C>G	NP_001303279.1:p.Phe147Leu