Canonical Allele Identifier: CA382894721
Community Standard Title: NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119091494C>T , CM000673.2:g.119091494C>T GRCh38
NC_000011.9:g.118962204C>T , CM000673.1:g.118962204C>T GRCh37
NC_000011.8:g.118467414C>T NCBI36
NG_008093.1:g.11618C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.580C>T MANE Select NP_000181.2:p.Gln194Ter
ENST00000652429.1:c.580C>T MANE Select ENSP00000498786.1:p.Gln194Ter
NM_000190.3:c.580C>T NP_000181.2:p.Gln194Ter
NM_001024382.1:c.529C>T NP_001019553.1:p.Gln177Ter
NM_001024382.2:c.529C>T NP_001019553.1:p.Gln177Ter
NM_001258208.1:c.580C>T NP_001245137.1:p.Gln194Ter
NM_001258208.2:c.580C>T NP_001245137.1:p.Gln194Ter
NM_001258209.1:c.529C>T NP_001245138.1:p.Gln177Ter
NM_001258209.2:c.529C>T NP_001245138.1:p.Gln177Ter
ENST00000278715.7:c.580C>T ENSP00000278715.3:p.Gln194Ter
ENST00000392841.1:c.529C>T ENSP00000376584.1:p.Gln177Ter
ENST00000442944.6:c.529C>T ENSP00000392041.2:p.Gln177Ter
ENST00000442944.7:c.562C>T ENSP00000392041.3:p.Gln188Ter
ENST00000534956.1:n.415-367C>T
ENST00000534956.2:n.448-367C>T
ENST00000535253.5:c.529C>T ENSP00000442079.1:p.Gln177Ter
ENST00000535793.5:c.*475C>T ENSP00000439904.1:n.*475C>T
ENST00000536813.6:c.529C>T ENSP00000438726.2:p.Gln177Ter
ENST00000537841.5:c.529C>T ENSP00000444730.1:p.Gln177Ter
ENST00000539986.5:c.529C>T ENSP00000440092.1:p.Gln177Ter
ENST00000542044.5:n.1025C>T
ENST00000542345.5:n.718C>T
ENST00000542729.5:c.529C>T ENSP00000443058.1:p.Gln177Ter
ENST00000542822.5:c.*516C>T ENSP00000444817.1:n.*516C>T
ENST00000543090.5:c.526C>T ENSP00000445429.1:p.Gln176Ter
ENST00000543543.5:n.815C>T
ENST00000544360.5:n.548C>T
ENST00000544387.5:c.580C>T ENSP00000438424.1:p.Gln194Ter
ENST00000545621.5:c.*475C>T ENSP00000444849.1:n.*475C>T
ENST00000546226.5:n.868C>T
ENST00000546302.5:c.502C>T ENSP00000445599.1:p.Gln168Ter
ENST00000546302.6:c.502C>T ENSP00000445599.1:p.Gln168Ter
ENST00000640813.1:c.448-367C>T ENSP00000491061.1:n.448-367C>T
ENST00000648026.1:c.493-367C>T ENSP00000498044.1:n.493-367C>T
ENST00000648374.1:c.529C>T ENSP00000497255.1:p.Gln177Ter
ENST00000648488.1:c.*85+238C>T ENSP00000498079.1:n.*85+238C>T
ENST00000649823.1:n.797C>T
ENST00000649868.1:c.*207-367C>T ENSP00000497548.1:n.*207-367C>T
ENST00000650101.1:c.511C>T ENSP00000496970.1:p.Gln171Ter
ENST00000650307.1:n.1406C>T
ENST00000686218.1:c.415C>T ENSP00000509288.1:p.Gln139Ter
ENST00000686690.1:n.1430C>T
ENST00000691144.1:n.2321C>T
ENST00000691249.1:n.1164C>T
XM_005271531.1:c.529C>T XP_005271588.1:p.Gln177Ter
XM_005271532.1:c.529C>T XP_005271589.1:p.Gln177Ter
XM_005271533.2:c.526C>T XP_005271590.1:p.Gln176Ter
XM_005271533.3:c.526C>T XP_005271590.1:p.Gln176Ter
XM_011542796.1:c.415C>T XP_011541098.1:p.Gln139Ter
XM_017017629.1:c.529C>T XP_016873118.1:p.Gln177Ter
XM_024448460.1:c.526C>T XP_024304228.1:p.Gln176Ter