Canonical Allele Identifier: CA1693101972

Gene: ABCB5

Genomic Alleles

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

Transcript Alleles

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