Canonical Allele Identifier: CA4177456

Gene: ABCB5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.20728390G>C , CM000669.2:g.20728390G>C	GRCh38
NC_000007.13:g.20768013G>C , CM000669.1:g.20768013G>C	GRCh37
NC_000007.12:g.20734538G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404938.7:c.2802G>C MANE Select	ENSP00000384881.2:p.Ala934=
ENST00000258738.10:c.1467G>C	ENSP00000258738.6:p.Ala489=
ENST00000404938.6:c.2802G>C	ENSP00000384881.2:p.Ala934=
ENST00000441315.1:c.303G>C	ENSP00000398692.1:p.Ala101=
NM_001163941.1:c.2802G>C	NP_001157413.1:p.Ala934=
NM_178559.5:c.1467G>C	NP_848654.3:p.Ala489=
XM_011515367.1:c.1467G>C	XP_011513669.1:p.Ala489=
XM_011515368.1:c.1467G>C	XP_011513670.1:p.Ala489=
XM_011515367.2:c.1467G>C	XP_011513669.1:p.Ala489=
NM_001163941.2:c.2802G>C MANE Select	NP_001157413.1:p.Ala934=
NM_178559.6:c.1467G>C	NP_848654.3:p.Ala489=