Canonical Allele Identifier: CA2830536776

Gene: PAICS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56446452C>T , CM000666.2:g.56446452C>T	GRCh38
NC_000004.11:g.57312618C>T , CM000666.1:g.57312618C>T	GRCh37
NC_000004.10:g.57007375C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512576.3:c.215-243C>T MANE Select	ENSP00000421096.1:n.215-243C>T
ENST00000264221.6:c.215-243C>T	ENSP00000264221.2:n.215-243C>T
ENST00000399688.7:c.235+75C>T	ENSP00000382595.3:n.235+75C>T
ENST00000505164.5:c.215-243C>T	ENSP00000424053.1:n.215-243C>T
ENST00000512576.2:c.215-243C>T	ENSP00000421096.1:n.215-243C>T
ENST00000514888.5:c.-62-243C>T	ENSP00000424907.1:n.-62-243C>T
NM_001079524.1:c.215-243C>T	NP_001072992.1:n.215-243C>T
NM_001079525.1:c.235+75C>T	NP_001072993.1:n.235+75C>T
NM_006452.3:c.215-243C>T	NP_006443.1:n.215-243C>T
XM_011534366.1:c.215-243C>T	XP_011532668.1:n.215-243C>T
NM_001079524.2:c.215-243C>T MANE Select	NP_001072992.1:n.215-243C>T
NM_001079525.2:c.235+75C>T	NP_001072993.1:n.235+75C>T
NM_001392010.1:c.1381+75C>T	NP_001378939.1:n.1381+75C>T
NM_001392011.1:c.1297+75C>T	NP_001378940.1:n.1297+75C>T
NM_001392012.1:c.842-243C>T	NP_001378941.1:n.842-243C>T
NM_006452.4:c.215-243C>T	NP_006443.1:n.215-243C>T