Canonical Allele Identifier: CA10586306
Gene: BCL11A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.60546213C>A , CM000664.2:g.60546213C>A GRCh38
NC_000002.11:g.60773348C>A , CM000664.1:g.60773348C>A GRCh37
NC_000002.10:g.60626852C>A NCBI36
NG_011968.1:g.12286G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022893.4:c.143G>T MANE Select NP_075044.2:p.Cys48Phe
ENST00000642384.2:c.143G>T MANE Select ENSP00000496168.1:p.Cys48Phe
NM_001363864.1:c.143G>T NP_001350793.1:p.Cys48Phe
NM_001365609.1:c.143G>T NP_001352538.1:p.Cys48Phe
NM_018014.3:c.143G>T NP_060484.2:p.Cys48Phe
NM_018014.4:c.143G>T NP_060484.2:p.Cys48Phe
NM_022893.3:c.143G>T NP_075044.2:p.Cys48Phe
NM_138559.1:c.143G>T NP_612569.1:p.Cys48Phe
NM_138559.2:c.143G>T NP_612569.1:p.Cys48Phe
ENST00000335712.10:c.143G>T ENSP00000338774.6:p.Cys48Phe
ENST00000335712.11:c.143G>T ENSP00000338774.7:p.Cys48Phe
ENST00000356842.8:c.143G>T ENSP00000349300.4:p.Cys48Phe
ENST00000356842.9:c.143G>T ENSP00000349300.4:p.Cys48Phe
ENST00000358510.5:c.143G>T ENSP00000351307.4:p.Cys48Phe
ENST00000358510.6:c.143G>T ENSP00000351307.5:p.Cys48Phe
ENST00000359629.10:c.143G>T ENSP00000352648.5:p.Cys48Phe
ENST00000359629.9:c.143G>T ENSP00000352648.5:p.Cys48Phe
ENST00000409351.4:c.143G>T ENSP00000487844.1:p.Cys48Phe
ENST00000409351.5:c.143G>T ENSP00000487844.1:p.Cys48Phe
ENST00000489516.6:c.-14G>T ENSP00000488390.1:n.-14G>T
ENST00000489516.7:c.137G>T ENSP00000488390.2:p.Cys46Phe
ENST00000631857.1:c.143G>T ENSP00000488886.1:p.Cys48Phe
ENST00000642180.1:c.71G>T ENSP00000493887.1:p.Cys24Phe
ENST00000642439.1:c.143G>T ENSP00000493484.1:p.Cys48Phe
ENST00000643004.1:c.143G>T ENSP00000496736.1:p.Cys48Phe
ENST00000643222.1:c.128G>T ENSP00000495862.1:p.Cys43Phe
ENST00000643459.1:c.128G>T ENSP00000494996.1:p.Cys43Phe
ENST00000643716.1:c.143G>T ENSP00000494397.1:p.Cys48Phe
ENST00000644606.1:n.182G>T
ENST00000646249.1:c.143G>T ENSP00000495759.1:p.Cys48Phe
ENST00000647038.1:n.227G>T
ENST00000647469.1:c.47G>T ENSP00000496304.1:p.Cys16Phe
XM_011532909.1:c.143G>T XP_011531211.1:p.Cys48Phe
XM_011532910.1:c.143G>T XP_011531212.1:p.Cys48Phe
XM_011532911.1:c.143G>T XP_011531213.1:p.Cys48Phe
XM_011532912.1:c.143G>T XP_011531214.1:p.Cys48Phe
XM_011532913.1:c.137G>T XP_011531215.1:p.Cys46Phe
XM_011532914.1:c.137G>T XP_011531216.1:p.Cys46Phe
XM_017004333.1:c.137G>T XP_016859822.1:p.Cys46Phe
XM_017004335.1:c.137G>T XP_016859824.1:p.Cys46Phe
XM_024452962.1:c.-14G>T XP_024308730.1:n.-14G>T
XM_024452963.1:c.-14G>T XP_024308731.1:n.-14G>T