Canonical Allele Identifier: CA2003790784
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1784304

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092106C>G , CM000673.2:g.119092106C>G GRCh38
NC_000011.9:g.118962816C>G , CM000673.1:g.118962816C>G GRCh37
NC_000011.8:g.118468026C>G NCBI36
NG_008093.1:g.12230C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.448-19C>G ENSP00000509288.1:n.448-19C>G
ENST00000691144.1:n.2354-19C>G
ENST00000691249.1:n.1197-19C>G
ENST00000442944.7:c.595-19C>G ENSP00000392041.3:n.595-19C>G
ENST00000536813.6:c.562-19C>G ENSP00000438726.2:n.562-19C>G
ENST00000546302.6:c.535-19C>G ENSP00000445599.1:n.535-19C>G
ENST00000640813.1:c.461+232C>G ENSP00000491061.1:n.461+232C>G
ENST00000648026.1:c.507-19C>G ENSP00000498044.1:n.507-19C>G
ENST00000648374.1:c.562-19C>G ENSP00000497255.1:n.562-19C>G
ENST00000648488.1:c.*86-19C>G ENSP00000498079.1:n.*86-19C>G
ENST00000649823.1:n.830-19C>G
ENST00000650101.1:c.544-19C>G ENSP00000496970.1:n.544-19C>G
ENST00000650307.1:n.1439-19C>G
ENST00000652429.1:c.613-19C>G MANE Select ENSP00000498786.1:n.613-19C>G
ENST00000278715.7:c.613-19C>G ENSP00000278715.3:n.613-19C>G
ENST00000392841.1:c.562-19C>G ENSP00000376584.1:n.562-19C>G
ENST00000442944.6:c.562-19C>G ENSP00000392041.2:n.562-19C>G
ENST00000537841.5:c.562-19C>G ENSP00000444730.1:n.562-19C>G
ENST00000542044.5:n.1058-19C>G
ENST00000542345.5:n.751-19C>G
ENST00000542729.5:c.562-19C>G ENSP00000443058.1:n.562-19C>G
ENST00000543090.5:c.559-298C>G ENSP00000445429.1:n.559-298C>G
ENST00000543543.5:n.848-19C>G
ENST00000544182.1:n.569C>G
ENST00000544387.5:c.613-19C>G ENSP00000438424.1:n.613-19C>G
ENST00000545621.5:c.*508-19C>G ENSP00000444849.1:n.*508-19C>G
ENST00000546226.5:n.901-19C>G
ENST00000546302.5:c.535-19C>G ENSP00000445599.1:n.535-19C>G
NM_000190.3:c.613-19C>G NP_000181.2:n.613-19C>G
NM_001024382.1:c.562-19C>G NP_001019553.1:n.562-19C>G
NM_001258208.1:c.613-19C>G NP_001245137.1:n.613-19C>G
NM_001258209.1:c.562-19C>G NP_001245138.1:n.562-19C>G
XM_005271531.1:c.562-19C>G XP_005271588.1:n.562-19C>G
XM_005271532.1:c.562-19C>G XP_005271589.1:n.562-19C>G
XM_005271533.2:c.559-19C>G XP_005271590.1:n.559-19C>G
XM_011542796.1:c.448-19C>G XP_011541098.1:n.448-19C>G
NM_000190.4:c.613-19C>G MANE Select NP_000181.2:n.613-19C>G
NM_001024382.2:c.562-19C>G NP_001019553.1:n.562-19C>G
XM_005271533.3:c.559-19C>G XP_005271590.1:n.559-19C>G
XM_017017629.1:c.562-19C>G XP_016873118.1:n.562-19C>G
XM_024448460.1:c.559-19C>G XP_024304228.1:n.559-19C>G
NM_001258208.2:c.613-19C>G NP_001245137.1:n.613-19C>G
NM_001258209.2:c.562-19C>G NP_001245138.1:n.562-19C>G