Canonical Allele Identifier: CA1451875

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265762T>C , CM000663.2:g.231265762T>C	GRCh38
NC_000001.10:g.231401508T>C , CM000663.1:g.231401508T>C	GRCh37
NC_000001.9:g.229468131T>C	NCBI36
NG_008240.1:g.29590T>C
NG_008240.2:g.29590T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.747T>C MANE Select	NP_055051.1:p.Ser249=
ENST00000366647.9:c.747T>C MANE Select	ENSP00000355607.4:p.Ser249=
NM_001316350.1:c.564T>C	NP_001303279.1:p.Ser188=
NM_001316350.2:c.564T>C	NP_001303279.1:p.Ser188=
NM_014236.3:c.747T>C	NP_055051.1:p.Ser249=
ENST00000366647.8:c.747T>C	ENSP00000355607.4:p.Ser249=
ENST00000416000.1:c.717T>C	ENSP00000411640.1:p.Ser239=
ENST00000436239.5:c.564T>C	ENSP00000402811.1:p.Ser188=
ENST00000644483.1:c.*433T>C	ENSP00000496537.1:n.*433T>C
XM_005273313.3:c.744T>C	XP_005273370.1:p.Ser248=
XM_005273313.4:c.744T>C	XP_005273370.1:p.Ser248=
XM_011544303.1:c.420T>C	XP_011542605.1:p.Ser140=
XM_011544303.3:c.420T>C	XP_011542605.1:p.Ser140=
XM_011544304.1:c.420T>C	XP_011542606.1:p.Ser140=
XM_011544304.2:c.420T>C	XP_011542606.1:p.Ser140=