Canonical Allele Identifier: CA4066724
Community Standard Title: NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)
Gene: ARID1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.156778918G>C , CM000668.2:g.156778918G>C GRCh38
NC_000006.11:g.157100052G>C , CM000668.1:g.157100052G>C GRCh37
NC_000006.10:g.157141744G>C NCBI36
NG_032093.1:g.5989G>C
NG_032093.2:g.5989G>C
NG_066624.1:g.7893G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001374828.1:c.1238G>C MANE Select NP_001361757.1:p.Gly413Ala
ENST00000636930.2:c.1238G>C MANE Select ENSP00000490491.2:p.Gly413Ala
NM_001346813.1:c.989G>C NP_001333742.1:p.Gly330Ala
NM_001371656.1:c.1238G>C NP_001358585.1:p.Gly413Ala
NM_001374820.1:c.1238G>C NP_001361749.1:p.Gly413Ala
NM_017519.2:c.989G>C NP_059989.2:p.Gly330Ala
NM_017519.3:c.1238G>C NP_059989.3:p.Gly413Ala
NM_020732.3:c.989G>C NP_065783.3:p.Gly330Ala
ENST00000346085.10:c.1238G>C ENSP00000344546.5:p.Gly413Ala
ENST00000346085.9:c.989G>C ENSP00000344546.4:p.Gly330Ala
ENST00000350026.10:c.989G>C ENSP00000055163.7:p.Gly330Ala
ENST00000350026.11:c.1238G>C ENSP00000055163.8:p.Gly413Ala
ENST00000350026.9:c.989G>C ENSP00000055163.7:p.Gly330Ala
ENST00000414678.8:c.1238G>C ENSP00000412835.3:p.Gly413Ala
ENST00000637015.2:c.1238G>C ENSP00000489729.2:p.Gly413Ala
ENST00000647938.1:c.989G>C ENSP00000498155.1:p.Gly330Ala
ENST00000674298.1:c.978G>C
XM_005267069.3:c.989G>C XP_005267126.2:p.Gly330Ala
XM_011535984.2:c.989G>C XP_011534286.2:p.Gly330Ala
XM_017011103.2:c.989G>C XP_016866592.1:p.Gly330Ala
XM_017011104.1:c.989G>C XP_016866593.1:p.Gly330Ala
XM_017011105.2:c.989G>C XP_016866594.1:p.Gly330Ala
XM_017011106.2:c.989G>C XP_016866595.1:p.Gly330Ala
XM_017011107.2:c.989G>C XP_016866596.1:p.Gly330Ala
XR_002956289.1:n.1072G>C