Canonical Allele Identifier: CA672379058
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1245280771
MyVariant Identifiers: chr11:g.118964263G>A (hg19) chr11:g.119093553G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093553G>A , CM000673.2:g.119093553G>A GRCh38
NC_000011.9:g.118964263G>A , CM000673.1:g.118964263G>A GRCh37
NC_000011.8:g.118469473G>A NCBI36
NG_008093.1:g.13677G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*270G>A ENSP00000509288.1:n.*270G>A
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