Canonical Allele Identifier: CA382899163
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1444336967

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093134C>G , CM000673.2:g.119093134C>G GRCh38
NC_000011.9:g.118963844C>G , CM000673.1:g.118963844C>G GRCh37
NC_000011.8:g.118469054C>G NCBI36
NG_008093.1:g.13258C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.772C>G ENSP00000509288.1:p.Pro258Ala
ENST00000691144.1:n.3152C>G
ENST00000691249.1:n.1761C>G
ENST00000442944.7:c.919C>G ENSP00000392041.3:p.Pro307Ala
ENST00000640813.1:c.*174C>G ENSP00000491061.1:n.*174C>G
ENST00000648026.1:c.831C>G ENSP00000498044.1:n.831C>G
ENST00000648374.1:c.886C>G ENSP00000497255.1:p.Pro296Ala
ENST00000650101.1:c.868C>G ENSP00000496970.1:p.Pro290Ala
ENST00000650307.1:n.1763C>G
ENST00000652429.1:c.937C>G MANE Select ENSP00000498786.1:p.Pro313Ala
ENST00000278715.7:c.937C>G ENSP00000278715.3:p.Pro313Ala
ENST00000392841.1:c.886C>G ENSP00000376584.1:p.Pro296Ala
ENST00000442944.6:c.886C>G ENSP00000392041.2:p.Pro296Ala
ENST00000537841.5:c.886C>G ENSP00000444730.1:p.Pro296Ala
ENST00000539045.1:n.436C>G
ENST00000542044.5:n.1382C>G
ENST00000542729.5:c.766C>G ENSP00000443058.1:p.Pro256Ala
ENST00000543090.5:c.844C>G ENSP00000445429.1:p.Pro282Ala
ENST00000543543.5:n.1412C>G
ENST00000544182.1:n.1386C>G
ENST00000544387.5:c.817C>G ENSP00000438424.1:p.Pro273Ala
ENST00000546226.5:n.1699C>G
NM_000190.3:c.937C>G NP_000181.2:p.Pro313Ala
NM_001024382.1:c.886C>G NP_001019553.1:p.Pro296Ala
NM_001258208.1:c.817C>G NP_001245137.1:p.Pro273Ala
NM_001258209.1:c.766C>G NP_001245138.1:p.Pro256Ala
XM_005271531.1:c.886C>G XP_005271588.1:p.Pro296Ala
XM_005271532.1:c.886C>G XP_005271589.1:p.Pro296Ala
XM_005271533.2:c.883C>G XP_005271590.1:p.Pro295Ala
XM_011542796.1:c.772C>G XP_011541098.1:p.Pro258Ala
NM_000190.4:c.937C>G MANE Select NP_000181.2:p.Pro313Ala
NM_001024382.2:c.886C>G NP_001019553.1:p.Pro296Ala
XM_005271533.3:c.883C>G XP_005271590.1:p.Pro295Ala
XM_017017629.1:c.886C>G XP_016873118.1:p.Pro296Ala
XM_024448460.1:c.763C>G XP_024304228.1:p.Pro255Ala
NM_001258208.2:c.817C>G NP_001245137.1:p.Pro273Ala
NM_001258209.2:c.766C>G NP_001245138.1:p.Pro256Ala