Canonical Allele Identifier: CA1451827

Gene: GNPAT

Linked Data

• ClinVar Variation Id: 2843015
• ClinVar RCV Id: RCV003723743
• dbSNP Id: rs767441060
• ExAC: 1:231401029 T / C
• gnomAD v2: 1-231401029-T-C
• gnomAD v3: 1-231265283-T-C
• gnomAD v4: 1-231265283-T-C
• MyVariant Identifiers: chr1:g.231401029T>C (hg19) ; chr1:g.231265283T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265283T>C , CM000663.2:g.231265283T>C	GRCh38
NC_000001.10:g.231401029T>C , CM000663.1:g.231401029T>C	GRCh37
NC_000001.9:g.229467652T>C	NCBI36
NG_008240.1:g.29111T>C
NG_008240.2:g.29111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.569-10T>C MANE Select	ENSP00000355607.4:n.569-10T>C
ENST00000644483.1:c.*255-10T>C	ENSP00000496537.1:n.*255-10T>C
ENST00000366647.8:c.569-10T>C	ENSP00000355607.4:n.569-10T>C
ENST00000416000.1:c.539-10T>C	ENSP00000411640.1:n.539-10T>C
ENST00000436239.5:c.386-10T>C	ENSP00000402811.1:n.386-10T>C
NM_001316350.1:c.386-10T>C	NP_001303279.1:n.386-10T>C
NM_014236.3:c.569-10T>C	NP_055051.1:n.569-10T>C
XM_005273313.3:c.566-10T>C	XP_005273370.1:n.566-10T>C
XM_011544303.1:c.242-10T>C	XP_011542605.1:n.242-10T>C
XM_011544304.1:c.242-10T>C	XP_011542606.1:n.242-10T>C
XM_005273313.4:c.566-10T>C	XP_005273370.1:n.566-10T>C
XM_011544303.3:c.242-10T>C	XP_011542605.1:n.242-10T>C
XM_011544304.2:c.242-10T>C	XP_011542606.1:n.242-10T>C
NM_014236.4:c.569-10T>C MANE Select	NP_055051.1:n.569-10T>C
NM_001316350.2:c.386-10T>C	NP_001303279.1:n.386-10T>C