Canonical Allele Identifier: CA345233402

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401144A>C (hg19) ; chr1:g.231265398A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265398A>C , CM000663.2:g.231265398A>C	GRCh38
NC_000001.10:g.231401144A>C , CM000663.1:g.231401144A>C	GRCh37
NC_000001.9:g.229467767A>C	NCBI36
NG_008240.1:g.29226A>C
NG_008240.2:g.29226A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.674A>C MANE Select	ENSP00000355607.4:p.Glu225Ala
ENST00000644483.1:c.*360A>C	ENSP00000496537.1:n.*360A>C
ENST00000366647.8:c.674A>C	ENSP00000355607.4:p.Glu225Ala
ENST00000416000.1:c.644A>C	ENSP00000411640.1:p.Glu215Ala
ENST00000436239.5:c.491A>C	ENSP00000402811.1:p.Glu164Ala
NM_001316350.1:c.491A>C	NP_001303279.1:p.Glu164Ala
NM_014236.3:c.674A>C	NP_055051.1:p.Glu225Ala
XM_005273313.3:c.671A>C	XP_005273370.1:p.Glu224Ala
XM_011544303.1:c.347A>C	XP_011542605.1:p.Glu116Ala
XM_011544304.1:c.347A>C	XP_011542606.1:p.Glu116Ala
XM_005273313.4:c.671A>C	XP_005273370.1:p.Glu224Ala
XM_011544303.3:c.347A>C	XP_011542605.1:p.Glu116Ala
XM_011544304.2:c.347A>C	XP_011542606.1:p.Glu116Ala
NM_014236.4:c.674A>C MANE Select	NP_055051.1:p.Glu225Ala
NM_001316350.2:c.491A>C	NP_001303279.1:p.Glu164Ala