Canonical Allele Identifier: CA59897099
Community Standard Title: NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168993781C>A , CM000664.2:g.168993781C>A GRCh38
NC_000002.11:g.169850291C>A , CM000664.1:g.169850291C>A GRCh37
NC_000002.10:g.169558537C>A NCBI36
NG_007374.1:g.42543G>T
NG_007374.2:g.42616G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.713G>T MANE Select NP_003733.2:p.Gly238Val
ENST00000650372.1:c.713G>T MANE Select ENSP00000497931.1:p.Gly238Val
NM_003742.2:c.713G>T NP_003733.2:p.Gly238Val
ENST00000263817.6:c.713G>T ENSP00000263817.6:p.Gly238Val
XM_006712817.2:c.755G>T XP_006712880.1:p.Gly252Val
XM_006712817.3:c.755G>T XP_006712880.1:p.Gly252Val
XM_011512077.1:c.815G>T XP_011510379.1:p.Gly272Val
XM_011512077.2:c.815G>T XP_011510379.1:p.Gly272Val
XM_011512078.1:c.815G>T XP_011510380.1:p.Gly272Val
XM_011512078.2:c.815G>T XP_011510380.1:p.Gly272Val
XM_011512079.1:c.815G>T XP_011510381.1:p.Gly272Val
XM_011512080.1:c.815G>T XP_011510382.1:p.Gly272Val
XM_011512080.2:c.815G>T XP_011510382.1:p.Gly272Val
XM_017005165.1:c.815G>T XP_016860654.1:p.Gly272Val
XM_017005166.1:c.44G>T XP_016860655.1:p.Gly15Val