Canonical Allele Identifier: CA2616352360
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119084875-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119084875C>A , CM000673.2:g.119084875C>A GRCh38
NC_000011.9:g.118955585C>A , CM000673.1:g.118955585C>A GRCh37
NC_000011.8:g.118460795C>A NCBI36
NG_008093.1:g.4999C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000536185.5:n.10C>A
XM_005271533.3:c.-159C>A XP_005271590.1:n.-159C>A
XM_024448460.1:c.-159C>A XP_024304228.1:n.-159C>A
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