Canonical Allele Identifier: CA2830536775
Gene: PAICS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56446451G>A , CM000666.2:g.56446451G>A GRCh38
NC_000004.11:g.57312617G>A , CM000666.1:g.57312617G>A GRCh37
NC_000004.10:g.57007374G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000512576.3:c.215-244G>A MANE Select ENSP00000421096.1:n.215-244G>A
ENST00000264221.6:c.215-244G>A ENSP00000264221.2:n.215-244G>A
ENST00000399688.7:c.235+74G>A ENSP00000382595.3:n.235+74G>A
ENST00000505164.5:c.215-244G>A ENSP00000424053.1:n.215-244G>A
ENST00000512576.2:c.215-244G>A ENSP00000421096.1:n.215-244G>A
ENST00000514888.5:c.-62-244G>A ENSP00000424907.1:n.-62-244G>A
NM_001079524.1:c.215-244G>A NP_001072992.1:n.215-244G>A
NM_001079525.1:c.235+74G>A NP_001072993.1:n.235+74G>A
NM_006452.3:c.215-244G>A NP_006443.1:n.215-244G>A
XM_011534366.1:c.215-244G>A XP_011532668.1:n.215-244G>A
NM_001079524.2:c.215-244G>A MANE Select NP_001072992.1:n.215-244G>A
NM_001079525.2:c.235+74G>A NP_001072993.1:n.235+74G>A
NM_001392010.1:c.1381+74G>A NP_001378939.1:n.1381+74G>A
NM_001392011.1:c.1297+74G>A NP_001378940.1:n.1297+74G>A
NM_001392012.1:c.842-244G>A NP_001378941.1:n.842-244G>A
NM_006452.4:c.215-244G>A NP_006443.1:n.215-244G>A