Canonical Allele Identifier: CA1723579283
Community Standard Title: NM_000443.4(ABCB4):c.523A= (p.Thr175=)
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87452957T= , CM000669.2:g.87452957T= GRCh38
NC_000007.13:g.87082273T= , CM000669.1:g.87082273T= GRCh37
NC_000007.12:g.86920209T= NCBI36
NG_007118.1:g.32476A=
NG_007118.2:g.32476A=

Transcript Alleles

HGVS Amino-acid Change
NM_000443.4:c.523A= MANE Select NP_000434.1:p.Thr175=
ENST00000649586.2:c.523A= MANE Select ENSP00000496956.2:p.Thr175=
NM_000443.3:c.523A= NP_000434.1:p.Thr175=
NM_018849.2:c.523A= NP_061337.1:p.Thr175=
NM_018849.3:c.523A= NP_061337.1:p.Thr175=
NM_018850.2:c.523A= NP_061338.1:p.Thr175=
NM_018850.3:c.523A= NP_061338.1:p.Thr175=
ENST00000265723.8:c.523A= ENSP00000265723.4:p.Thr175=
ENST00000358400.7:c.523A= ENSP00000351172.3:p.Thr175=
ENST00000359206.7:c.523A= ENSP00000352135.3:p.Thr175=
ENST00000359206.8:c.523A= ENSP00000352135.3:p.Thr175=
ENST00000453593.5:c.523A= ENSP00000392983.1:p.Thr175=
ENST00000473795.1:n.530A=
ENST00000643670.1:c.466A= ENSP00000496629.1:p.Thr156=
ENST00000644106.1:c.523A= ENSP00000493477.1:p.Thr175=
XM_011516308.1:c.523A= XP_011514610.1:p.Thr175=
XM_011516308.3:c.793A= XP_011514610.3:p.Thr265=
XM_011516309.1:c.523A= XP_011514611.1:p.Thr175=
XM_011516309.3:c.793A= XP_011514611.3:p.Thr265=
XM_011516310.1:c.523A= XP_011514612.1:p.Thr175=
XM_011516310.3:c.793A= XP_011514612.3:p.Thr265=
XM_011516311.1:c.523A= XP_011514613.1:p.Thr175=
XM_011516311.3:c.793A= XP_011514613.3:p.Thr265=
XM_011516312.1:c.523A= XP_011514614.1:p.Thr175=
XM_011516312.3:c.793A= XP_011514614.3:p.Thr265=
XM_011516313.1:c.523A= XP_011514615.1:p.Thr175=
XM_011516313.3:c.793A= XP_011514615.2:p.Thr265=
XM_011516314.1:c.544A= XP_011514616.1:p.Thr182=
XM_011516315.1:c.-61A= XP_011514617.1:n.-61A=
XM_011516315.3:c.-61A= XP_011514617.2:n.-61A=
XM_017012323.2:c.523A= XP_016867812.1:p.Thr175=
XR_001744809.2:n.1294A=
XR_001744810.2:n.1289A=
XR_927478.1:n.619A=