Canonical Allele Identifier: CA1693093483
Gene: ABCB5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20752375A= , CM000669.2:g.20752375A= GRCh38
NC_000007.13:g.20791998A= , CM000669.1:g.20791998A= GRCh37
NC_000007.12:g.20758523A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000404938.7:c.3430-985A= MANE Select ENSP00000384881.2:n.3430-985A=
ENST00000258738.10:c.2095-985A= ENSP00000258738.6:n.2095-985A=
ENST00000404938.6:c.3430-985A= ENSP00000384881.2:n.3430-985A=
ENST00000441315.1:c.930+6937A= ENSP00000398692.1:n.930+6937A=
NM_001163941.1:c.3430-985A= NP_001157413.1:n.3430-985A=
NM_178559.5:c.2095-985A= NP_848654.3:n.2095-985A=
XM_011515367.1:c.2095-985A= XP_011513669.1:n.2095-985A=
XM_011515368.1:c.2095-985A= XP_011513670.1:n.2095-985A=
XM_011515367.2:c.2095-985A= XP_011513669.1:n.2095-985A=
NM_001163941.2:c.3430-985A= MANE Select NP_001157413.1:n.3430-985A=
NM_178559.6:c.2095-985A= NP_848654.3:n.2095-985A=