Canonical Allele Identifier: CA2603281425
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs929694132

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093549T>C , CM000673.2:g.119093549T>C GRCh38
NC_000011.9:g.118964259T>C , CM000673.1:g.118964259T>C GRCh37
NC_000011.8:g.118469469T>C NCBI36
NG_008093.1:g.13673T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*266T>C ENSP00000509288.1:n.*266T>C
ENST00000652429.1:c.*266T>C MANE Select ENSP00000498786.1:n.*266T>C
ENST00000392841.1:c.*266T>C ENSP00000376584.1:n.*266T>C
NM_000190.3:c.*266T>C NP_000181.2:n.*266T>C
NM_001024382.1:c.*266T>C NP_001019553.1:n.*266T>C
NM_001258208.1:c.*266T>C NP_001245137.1:n.*266T>C
NM_001258209.1:c.*266T>C NP_001245138.1:n.*266T>C
XM_005271531.1:c.*266T>C XP_005271588.1:n.*266T>C
XM_005271532.1:c.*266T>C XP_005271589.1:n.*266T>C
XM_005271533.2:c.*266T>C XP_005271590.1:n.*266T>C
XM_011542796.1:c.*266T>C XP_011541098.1:n.*266T>C
NM_000190.4:c.*266T>C MANE Select NP_000181.2:n.*266T>C
NM_001024382.2:c.*266T>C NP_001019553.1:n.*266T>C
XM_005271533.3:c.*266T>C XP_005271590.1:n.*266T>C
XM_017017629.1:c.*266T>C XP_016873118.1:n.*266T>C
XM_024448460.1:c.*266T>C XP_024304228.1:n.*266T>C
NM_001258208.2:c.*266T>C NP_001245137.1:n.*266T>C
NM_001258209.2:c.*266T>C NP_001245138.1:n.*266T>C