Canonical Allele Identifier: CA251834

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092507C>T , CM000673.2:g.119092507C>T	GRCh38
NC_000011.9:g.118963217C>T , CM000673.1:g.118963217C>T	GRCh37
NC_000011.8:g.118468427C>T	NCBI36
NG_008093.1:g.12631C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000190.4:c.755C>T MANE Select	NP_000181.2:p.Ala252Val
ENST00000652429.1:c.755C>T MANE Select	ENSP00000498786.1:p.Ala252Val
NM_000190.3:c.755C>T	NP_000181.2:p.Ala252Val
NM_001024382.1:c.704C>T	NP_001019553.1:p.Ala235Val
NM_001024382.2:c.704C>T	NP_001019553.1:p.Ala235Val
NM_001258208.1:c.652-251C>T	NP_001245137.1:n.652-251C>T
NM_001258208.2:c.652-251C>T	NP_001245137.1:n.652-251C>T
NM_001258209.1:c.601-251C>T	NP_001245138.1:n.601-251C>T
NM_001258209.2:c.601-251C>T	NP_001245138.1:n.601-251C>T
ENST00000278715.7:c.755C>T	ENSP00000278715.3:p.Ala252Val
ENST00000392841.1:c.704C>T	ENSP00000376584.1:p.Ala235Val
ENST00000442944.6:c.704C>T	ENSP00000392041.2:p.Ala235Val
ENST00000442944.7:c.737C>T	ENSP00000392041.3:p.Ala246Val
ENST00000537841.5:c.704C>T	ENSP00000444730.1:p.Ala235Val
ENST00000542044.5:n.1200C>T
ENST00000542729.5:c.601-251C>T	ENSP00000443058.1:n.601-251C>T
ENST00000543090.5:c.662C>T	ENSP00000445429.1:p.Ala221Val
ENST00000543543.5:n.1230C>T
ENST00000544182.1:n.970C>T
ENST00000544387.5:c.652-251C>T	ENSP00000438424.1:n.652-251C>T
ENST00000546226.5:n.1283C>T
ENST00000640813.1:c.565C>T	ENSP00000491061.1:p.Pro189Ser
ENST00000648026.1:c.649C>T	ENSP00000498044.1:p.Pro217Ser
ENST00000648374.1:c.704C>T	ENSP00000497255.1:p.Ala235Val
ENST00000649823.1:n.1212C>T
ENST00000650101.1:c.686C>T	ENSP00000496970.1:p.Ala229Val
ENST00000650307.1:n.1581C>T
ENST00000686218.1:c.590C>T	ENSP00000509288.1:p.Ala197Val
ENST00000691144.1:n.2736C>T
ENST00000691249.1:n.1579C>T
XM_005271531.1:c.704C>T	XP_005271588.1:p.Ala235Val
XM_005271532.1:c.704C>T	XP_005271589.1:p.Ala235Val
XM_005271533.2:c.701C>T	XP_005271590.1:p.Ala234Val
XM_005271533.3:c.701C>T	XP_005271590.1:p.Ala234Val
XM_011542796.1:c.590C>T	XP_011541098.1:p.Ala197Val
XM_017017629.1:c.704C>T	XP_016873118.1:p.Ala235Val
XM_024448460.1:c.598-251C>T	XP_024304228.1:n.598-251C>T