Canonical Allele Identifier: CA345233096

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401066A>C (hg19) ; chr1:g.231265320A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265320A>C , CM000663.2:g.231265320A>C	GRCh38
NC_000001.10:g.231401066A>C , CM000663.1:g.231401066A>C	GRCh37
NC_000001.9:g.229467689A>C	NCBI36
NG_008240.1:g.29148A>C
NG_008240.2:g.29148A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.596A>C MANE Select	ENSP00000355607.4:p.Glu199Ala
ENST00000644483.1:c.*282A>C	ENSP00000496537.1:n.*282A>C
ENST00000366647.8:c.596A>C	ENSP00000355607.4:p.Glu199Ala
ENST00000416000.1:c.566A>C	ENSP00000411640.1:p.Glu189Ala
ENST00000436239.5:c.413A>C	ENSP00000402811.1:p.Glu138Ala
NM_001316350.1:c.413A>C	NP_001303279.1:p.Glu138Ala
NM_014236.3:c.596A>C	NP_055051.1:p.Glu199Ala
XM_005273313.3:c.593A>C	XP_005273370.1:p.Glu198Ala
XM_011544303.1:c.269A>C	XP_011542605.1:p.Glu90Ala
XM_011544304.1:c.269A>C	XP_011542606.1:p.Glu90Ala
XM_005273313.4:c.593A>C	XP_005273370.1:p.Glu198Ala
XM_011544303.3:c.269A>C	XP_011542605.1:p.Glu90Ala
XM_011544304.2:c.269A>C	XP_011542606.1:p.Glu90Ala
NM_014236.4:c.596A>C MANE Select	NP_055051.1:p.Glu199Ala
NM_001316350.2:c.413A>C	NP_001303279.1:p.Glu138Ala