Canonical Allele Identifier: CA423902547

Gene: GNPAT

Linked Data

• MyVariant Identifiers: chr1:g.231401142T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265396T>C , CM000663.2:g.231265396T>C	GRCh38
NC_000001.10:g.231401142T>C , CM000663.1:g.231401142T>C	GRCh37
NC_000001.9:g.229467765T>C	NCBI36
NG_008240.1:g.29224T>C
NG_008240.2:g.29224T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.672T>C MANE Select	ENSP00000355607.4:p.Ser224=
ENST00000644483.1:c.*358T>C	ENSP00000496537.1:n.*358T>C
ENST00000366647.8:c.672T>C	ENSP00000355607.4:p.Ser224=
ENST00000416000.1:c.642T>C	ENSP00000411640.1:p.Ser214=
ENST00000436239.5:c.489T>C	ENSP00000402811.1:p.Ser163=
NM_001316350.1:c.489T>C	NP_001303279.1:p.Ser163=
NM_014236.3:c.672T>C	NP_055051.1:p.Ser224=
XM_005273313.3:c.669T>C	XP_005273370.1:p.Ser223=
XM_011544303.1:c.345T>C	XP_011542605.1:p.Ser115=
XM_011544304.1:c.345T>C	XP_011542606.1:p.Ser115=
XM_005273313.4:c.669T>C	XP_005273370.1:p.Ser223=
XM_011544303.3:c.345T>C	XP_011542605.1:p.Ser115=
XM_011544304.2:c.345T>C	XP_011542606.1:p.Ser115=
NM_014236.4:c.672T>C MANE Select	NP_055051.1:p.Ser224=
NM_001316350.2:c.489T>C	NP_001303279.1:p.Ser163=