Canonical Allele Identifier: CA1451983

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 260360
• ClinVar RCV Id: RCV000252621 ; RCV000269302 ; RCV000879373 ; RCV001286439
• dbSNP Id: rs143205045
• ExAC: 1:231403582 T / C
• gnomAD v2: 1-231403582-T-C
• gnomAD v3: 1-231267836-T-C
• gnomAD v4: 1-231267836-T-C
• MyVariant Identifiers: chr1:g.231403582T>C (hg19) ; chr1:g.231267836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231267836T>C , CM000663.2:g.231267836T>C	GRCh38
NC_000001.10:g.231403582T>C , CM000663.1:g.231403582T>C	GRCh37
NC_000001.9:g.229470205T>C	NCBI36
NG_008240.1:g.31664T>C
NG_008240.2:g.31664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1212T>C MANE Select	ENSP00000355607.4:p.Ala404=
ENST00000644483.1:c.*898T>C	ENSP00000496537.1:n.*898T>C
ENST00000366647.8:c.1212T>C	ENSP00000355607.4:p.Ala404=
ENST00000416000.1:c.1182T>C	ENSP00000411640.1:p.Ala394=
ENST00000492459.1:n.320T>C
NM_001316350.1:c.1029T>C	NP_001303279.1:p.Ala343=
NM_014236.3:c.1212T>C	NP_055051.1:p.Ala404=
XM_005273313.3:c.1209T>C	XP_005273370.1:p.Ala403=
XM_011544303.1:c.885T>C	XP_011542605.1:p.Ala295=
XM_011544304.1:c.885T>C	XP_011542606.1:p.Ala295=
XM_005273313.4:c.1209T>C	XP_005273370.1:p.Ala403=
XM_011544303.3:c.885T>C	XP_011542605.1:p.Ala295=
XM_011544304.2:c.885T>C	XP_011542606.1:p.Ala295=
NM_014236.4:c.1212T>C MANE Select	NP_055051.1:p.Ala404=
NM_001316350.2:c.1029T>C	NP_001303279.1:p.Ala343=