Canonical Allele Identifier: CA4177742
Gene: ABCB5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.20755427G>T
GRCh37 chr7:g.20795050G>T
Revel Score:
ENST00000404938 (MANE Select) 0.172
ENST00000258738 0.172
gnomAD v2:
7:20795050 G / T
gnomAD v3:
7:20755427 G / T
gnomAD v4:
chr7-20755427-G-T
Joint Max Group AF 0.00001221 (NFE)
Exomes Max Group AF 0.00001214 (NFE)
ClinVar RCV:
RCV004075500
ClinVar Variation:
2213726
dbSNP:
745507733
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Genomic Alleles

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

Transcript Alleles

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