Canonical Allele Identifier: CA345237968

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231272345A>C , CM000663.2:g.231272345A>C	GRCh38
NC_000001.10:g.231408091A>C , CM000663.1:g.231408091A>C	GRCh37
NC_000001.9:g.229474714A>C	NCBI36
NG_008240.1:g.36173A>C
NG_008240.2:g.36173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1556A>C MANE Select	ENSP00000355607.4:p.Asp519Ala
ENST00000644483.1:c.*1242A>C	ENSP00000496537.1:n.*1242A>C
ENST00000366647.8:c.1556A>C	ENSP00000355607.4:p.Asp519Ala
ENST00000416000.1:c.1526A>C	ENSP00000411640.1:p.Asp509Ala
NM_001316350.1:c.1373A>C	NP_001303279.1:p.Asp458Ala
NM_014236.3:c.1556A>C	NP_055051.1:p.Asp519Ala
XM_005273313.3:c.1553A>C	XP_005273370.1:p.Asp518Ala
XM_011544303.1:c.1229A>C	XP_011542605.1:p.Asp410Ala
XM_011544304.1:c.1229A>C	XP_011542606.1:p.Asp410Ala
XM_005273313.4:c.1553A>C	XP_005273370.1:p.Asp518Ala
XM_011544303.3:c.1229A>C	XP_011542605.1:p.Asp410Ala
XM_011544304.2:c.1229A>C	XP_011542606.1:p.Asp410Ala
NM_014236.4:c.1556A>C MANE Select	NP_055051.1:p.Asp519Ala
NM_001316350.2:c.1373A>C	NP_001303279.1:p.Asp458Ala