Canonical Allele Identifier: CA4176471
Community Standard Title: NM_001163941.2(ABCB5):c.392C>T (p.Thr131Ile)
Gene: ABCB5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20643261C>T , CM000669.2:g.20643261C>T GRCh38
NC_000007.13:g.20682884C>T , CM000669.1:g.20682884C>T GRCh37
NC_000007.12:g.20649409C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001163941.2:c.392C>T MANE Select NP_001157413.1:p.Thr131Ile
ENST00000404938.7:c.392C>T MANE Select ENSP00000384881.2:p.Thr131Ile
NM_001163941.1:c.392C>T NP_001157413.1:p.Thr131Ile
ENST00000404938.6:c.392C>T ENSP00000384881.2:p.Thr131Ile
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