Canonical Allele Identifier: CA2003780450
Gene: HMBS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119084877C= , CM000673.2:g.119084877C= GRCh38
NC_000011.9:g.118955587C= , CM000673.1:g.118955587C= GRCh37
NC_000011.8:g.118460797C= NCBI36
NG_008093.1:g.5001C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000536185.5:n.12C=
NM_000190.3:c.-157C= NP_000181.2:n.-157C=
NM_001258208.1:c.-157C= NP_001245137.1:n.-157C=
NM_001258209.1:c.-299C= NP_001245138.1:n.-299C=
XM_005271533.2:c.-157C= XP_005271590.1:n.-157C=
XM_005271533.3:c.-157C= XP_005271590.1:n.-157C=
XM_024448460.1:c.-157C= XP_024304228.1:n.-157C=
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