Canonical Allele Identifier: CA1451832

Gene: GNPAT

Linked Data

• dbSNP Id: rs757474936
• ExAC: 1:231401067 G / C
• gnomAD v2: 1-231401067-G-C
• gnomAD v4: 1-231265321-G-C
• MyVariant Identifiers: chr1:g.231401067G>C (hg19) ; chr1:g.231265321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265321G>C , CM000663.2:g.231265321G>C	GRCh38
NC_000001.10:g.231401067G>C , CM000663.1:g.231401067G>C	GRCh37
NC_000001.9:g.229467690G>C	NCBI36
NG_008240.1:g.29149G>C
NG_008240.2:g.29149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.597G>C MANE Select	ENSP00000355607.4:p.Glu199Asp
ENST00000644483.1:c.*283G>C	ENSP00000496537.1:n.*283G>C
ENST00000366647.8:c.597G>C	ENSP00000355607.4:p.Glu199Asp
ENST00000416000.1:c.567G>C	ENSP00000411640.1:p.Glu189Asp
ENST00000436239.5:c.414G>C	ENSP00000402811.1:p.Glu138Asp
NM_001316350.1:c.414G>C	NP_001303279.1:p.Glu138Asp
NM_014236.3:c.597G>C	NP_055051.1:p.Glu199Asp
XM_005273313.3:c.594G>C	XP_005273370.1:p.Glu198Asp
XM_011544303.1:c.270G>C	XP_011542605.1:p.Glu90Asp
XM_011544304.1:c.270G>C	XP_011542606.1:p.Glu90Asp
XM_005273313.4:c.594G>C	XP_005273370.1:p.Glu198Asp
XM_011544303.3:c.270G>C	XP_011542605.1:p.Glu90Asp
XM_011544304.2:c.270G>C	XP_011542606.1:p.Glu90Asp
NM_014236.4:c.597G>C MANE Select	NP_055051.1:p.Glu199Asp
NM_001316350.2:c.414G>C	NP_001303279.1:p.Glu138Asp