Canonical Allele Identifier: CA349112728
Community Standard Title: NM_003742.4(ABCB11):c.1810-1G>A
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168969552C>T , CM000664.2:g.168969552C>T GRCh38
NC_000002.11:g.169826062C>T , CM000664.1:g.169826062C>T GRCh37
NC_000002.10:g.169534308C>T NCBI36
NG_007374.1:g.66772G>A
NG_007374.2:g.66845G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.1810-1G>A MANE Select NP_003733.2:n.1810-1G>A
ENST00000650372.1:c.1810-1G>A MANE Select ENSP00000497931.1:n.1810-1G>A
NM_003742.2:c.1810-1G>A NP_003733.2:n.1810-1G>A
ENST00000263817.6:c.1810-1G>A ENSP00000263817.6:n.1810-1G>A
ENST00000439188.1:c.499-1G>A ENSP00000416058.1:n.499-1G>A
ENST00000478354.1:n.548-1G>A
ENST00000649448.1:c.127-1G>A ENSP00000497165.1:n.127-1G>A
XM_006712817.2:c.1852-1G>A XP_006712880.1:n.1852-1G>A
XM_006712817.3:c.1852-1G>A XP_006712880.1:n.1852-1G>A
XM_011512077.1:c.1912-1G>A XP_011510379.1:n.1912-1G>A
XM_011512077.2:c.1912-1G>A XP_011510379.1:n.1912-1G>A
XM_011512078.1:c.1912-1G>A XP_011510380.1:n.1912-1G>A
XM_011512078.2:c.1912-1G>A XP_011510380.1:n.1912-1G>A
XM_011512079.1:c.1912-1G>A XP_011510381.1:n.1912-1G>A
XM_011512080.1:c.1912-1G>A XP_011510382.1:n.1912-1G>A
XM_011512080.2:c.1912-1G>A XP_011510382.1:n.1912-1G>A
XM_011512081.1:c.136-1G>A XP_011510383.1:n.136-1G>A
XM_011512081.2:c.136-1G>A XP_011510383.1:n.136-1G>A
XM_017005165.1:c.1912-1G>A XP_016860654.1:n.1912-1G>A
XM_017005166.1:c.1141-1G>A XP_016860655.1:n.1141-1G>A
XM_017005167.1:c.595-1G>A XP_016860656.1:n.595-1G>A