Canonical Allele Identifier: CA2580726859

Gene: ABCB5

Genomic Alleles

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

Transcript Alleles

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