Canonical Allele Identifier: CA366928770

Gene: ABCB5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.20755427G>C , CM000669.2:g.20755427G>C	GRCh38
NC_000007.13:g.20795050G>C , CM000669.1:g.20795050G>C	GRCh37
NC_000007.12:g.20761575G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001163941.2:c.3577G>C MANE Select	NP_001157413.1:p.Val1193Leu
ENST00000404938.7:c.3577G>C MANE Select	ENSP00000384881.2:p.Val1193Leu
NM_001163941.1:c.3577G>C	NP_001157413.1:p.Val1193Leu
NM_178559.5:c.2242G>C	NP_848654.3:p.Val748Leu
NM_178559.6:c.2242G>C	NP_848654.3:p.Val748Leu
ENST00000258738.10:c.2242G>C	ENSP00000258738.6:p.Val748Leu
ENST00000404938.6:c.3577G>C	ENSP00000384881.2:p.Val1193Leu
ENST00000441315.1:c.931-7829G>C	ENSP00000398692.1:n.931-7829G>C
XM_011515367.1:c.2242G>C	XP_011513669.1:p.Val748Leu
XM_011515367.2:c.2242G>C	XP_011513669.1:p.Val748Leu
XM_011515368.1:c.2242G>C	XP_011513670.1:p.Val748Leu