Canonical Allele Identifier: CA229597759
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1051300637
gnomAD v4: 11-119093550-T-C
MyVariant Identifiers: chr11:g.118964260T>C (hg19) chr11:g.119093550T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093550T>C , CM000673.2:g.119093550T>C GRCh38
NC_000011.9:g.118964260T>C , CM000673.1:g.118964260T>C GRCh37
NC_000011.8:g.118469470T>C NCBI36
NG_008093.1:g.13674T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*267T>C ENSP00000509288.1:n.*267T>C
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