Canonical Allele Identifier: CA2650998789

Gene: GNPAT

Linked Data

• gnomAD v4: 1-231265434-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265434A>C , CM000663.2:g.231265434A>C	GRCh38
NC_000001.10:g.231401180A>C , CM000663.1:g.231401180A>C	GRCh37
NC_000001.9:g.229467803A>C	NCBI36
NG_008240.1:g.29262A>C
NG_008240.2:g.29262A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.696+14A>C MANE Select	ENSP00000355607.4:n.696+14A>C
ENST00000644483.1:c.*382+14A>C	ENSP00000496537.1:n.*382+14A>C
ENST00000366647.8:c.696+14A>C	ENSP00000355607.4:n.696+14A>C
ENST00000416000.1:c.666+14A>C	ENSP00000411640.1:n.666+14A>C
ENST00000436239.5:c.513+14A>C	ENSP00000402811.1:n.513+14A>C
NM_001316350.1:c.513+14A>C	NP_001303279.1:n.513+14A>C
NM_014236.3:c.696+14A>C	NP_055051.1:n.696+14A>C
XM_005273313.3:c.693+14A>C	XP_005273370.1:n.693+14A>C
XM_011544303.1:c.369+14A>C	XP_011542605.1:n.369+14A>C
XM_011544304.1:c.369+14A>C	XP_011542606.1:n.369+14A>C
XM_005273313.4:c.693+14A>C	XP_005273370.1:n.693+14A>C
XM_011544303.3:c.369+14A>C	XP_011542605.1:n.369+14A>C
XM_011544304.2:c.369+14A>C	XP_011542606.1:n.369+14A>C
NM_014236.4:c.696+14A>C MANE Select	NP_055051.1:n.696+14A>C
NM_001316350.2:c.513+14A>C	NP_001303279.1:n.513+14A>C