Canonical Allele Identifier: CA345233101

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401067G>T (hg19) ; chr1:g.231265321G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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