Canonical Allele Identifier: CA1451947

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 296120
• ClinVar RCV Id: RCV000390788 ; RCV001511741
• dbSNP Id: rs201538200
• ExAC: 1:231402141 A / G
• gnomAD v2: 1-231402141-A-G
• gnomAD v3: 1-231266395-A-G
• gnomAD v4: 1-231266395-A-G
• MyVariant Identifiers: chr1:g.231402141A>G (hg19) ; chr1:g.231266395A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231266395A>G , CM000663.2:g.231266395A>G	GRCh38
NC_000001.10:g.231402141A>G , CM000663.1:g.231402141A>G	GRCh37
NC_000001.9:g.229468764A>G	NCBI36
NG_008240.1:g.30223A>G
NG_008240.2:g.30223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1043A>G MANE Select	ENSP00000355607.4:p.Asn348Ser
ENST00000644483.1:c.*729A>G	ENSP00000496537.1:n.*729A>G
ENST00000366647.8:c.1043A>G	ENSP00000355607.4:p.Asn348Ser
ENST00000416000.1:c.1013A>G	ENSP00000411640.1:p.Asn338Ser
ENST00000492459.1:n.151A>G
NM_001316350.1:c.860A>G	NP_001303279.1:p.Asn287Ser
NM_014236.3:c.1043A>G	NP_055051.1:p.Asn348Ser
XM_005273313.3:c.1040A>G	XP_005273370.1:p.Asn347Ser
XM_011544303.1:c.716A>G	XP_011542605.1:p.Asn239Ser
XM_011544304.1:c.716A>G	XP_011542606.1:p.Asn239Ser
XM_005273313.4:c.1040A>G	XP_005273370.1:p.Asn347Ser
XM_011544303.3:c.716A>G	XP_011542605.1:p.Asn239Ser
XM_011544304.2:c.716A>G	XP_011542606.1:p.Asn239Ser
NM_014236.4:c.1043A>G MANE Select	NP_055051.1:p.Asn348Ser
NM_001316350.2:c.860A>G	NP_001303279.1:p.Asn287Ser