Canonical Allele Identifier: CA1451973

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231267719T>C , CM000663.2:g.231267719T>C	GRCh38
NC_000001.10:g.231403465T>C , CM000663.1:g.231403465T>C	GRCh37
NC_000001.9:g.229470088T>C	NCBI36
NG_008240.1:g.31547T>C
NG_008240.2:g.31547T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1095T>C MANE Select	NP_055051.1:p.Phe365=
ENST00000366647.9:c.1095T>C MANE Select	ENSP00000355607.4:p.Phe365=
NM_001316350.1:c.912T>C	NP_001303279.1:p.Phe304=
NM_001316350.2:c.912T>C	NP_001303279.1:p.Phe304=
NM_014236.3:c.1095T>C	NP_055051.1:p.Phe365=
ENST00000366647.8:c.1095T>C	ENSP00000355607.4:p.Phe365=
ENST00000416000.1:c.1065T>C	ENSP00000411640.1:p.Phe355=
ENST00000492459.1:n.203T>C
ENST00000644483.1:c.*781T>C	ENSP00000496537.1:n.*781T>C
XM_005273313.3:c.1092T>C	XP_005273370.1:p.Phe364=
XM_005273313.4:c.1092T>C	XP_005273370.1:p.Phe364=
XM_011544303.1:c.768T>C	XP_011542605.1:p.Phe256=
XM_011544303.3:c.768T>C	XP_011542605.1:p.Phe256=
XM_011544304.1:c.768T>C	XP_011542606.1:p.Phe256=
XM_011544304.2:c.768T>C	XP_011542606.1:p.Phe256=