Canonical Allele Identifier: CA942780757
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1946341445
gnomAD v3: 11-119093624-G-A
gnomAD v4: 11-119093624-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093624G>A , CM000673.2:g.119093624G>A GRCh38
NC_000011.9:g.118964334G>A , CM000673.1:g.118964334G>A GRCh37
NC_000011.8:g.118469544G>A NCBI36
NG_008093.1:g.13748G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*341G>A ENSP00000509288.1:n.*341G>A
Search 100 bp 5'
Search 100 bp 3'