Canonical Allele Identifier: CA1451842

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 2623875
• ClinVar RCV Id: RCV003377300
• dbSNP Id: rs767459678
• ExAC: 1:231401113 G / A
• gnomAD v2: 1-231401113-G-A
• gnomAD v3: 1-231265367-G-A
• gnomAD v4: 1-231265367-G-A
• MyVariant Identifiers: chr1:g.231401113G>A (hg19) ; chr1:g.231265367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265367G>A , CM000663.2:g.231265367G>A	GRCh38
NC_000001.10:g.231401113G>A , CM000663.1:g.231401113G>A	GRCh37
NC_000001.9:g.229467736G>A	NCBI36
NG_008240.1:g.29195G>A
NG_008240.2:g.29195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.643G>A MANE Select	ENSP00000355607.4:p.Gly215Ser
ENST00000644483.1:c.*329G>A	ENSP00000496537.1:n.*329G>A
ENST00000366647.8:c.643G>A	ENSP00000355607.4:p.Gly215Ser
ENST00000416000.1:c.613G>A	ENSP00000411640.1:p.Gly205Ser
ENST00000436239.5:c.460G>A	ENSP00000402811.1:p.Gly154Ser
NM_001316350.1:c.460G>A	NP_001303279.1:p.Gly154Ser
NM_014236.3:c.643G>A	NP_055051.1:p.Gly215Ser
XM_005273313.3:c.640G>A	XP_005273370.1:p.Gly214Ser
XM_011544303.1:c.316G>A	XP_011542605.1:p.Gly106Ser
XM_011544304.1:c.316G>A	XP_011542606.1:p.Gly106Ser
XM_005273313.4:c.640G>A	XP_005273370.1:p.Gly214Ser
XM_011544303.3:c.316G>A	XP_011542605.1:p.Gly106Ser
XM_011544304.2:c.316G>A	XP_011542606.1:p.Gly106Ser
NM_014236.4:c.643G>A MANE Select	NP_055051.1:p.Gly215Ser
NM_001316350.2:c.460G>A	NP_001303279.1:p.Gly154Ser