Canonical Allele Identifier: CA477128854

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092508-C-T
• MyVariant Identifiers: chr11:g.118963218C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092508C>T , CM000673.2:g.119092508C>T	GRCh38
NC_000011.9:g.118963218C>T , CM000673.1:g.118963218C>T	GRCh37
NC_000011.8:g.118468428C>T	NCBI36
NG_008093.1:g.12632C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.591C>T	ENSP00000509288.1:p.Ala197=
ENST00000691144.1:n.2737C>T
ENST00000691249.1:n.1580C>T
ENST00000442944.7:c.738C>T	ENSP00000392041.3:p.Ala246=
ENST00000640813.1:c.566C>T	ENSP00000491061.1:p.Pro189Leu
ENST00000648026.1:c.650C>T	ENSP00000498044.1:p.Pro217Leu
ENST00000648374.1:c.705C>T	ENSP00000497255.1:p.Ala235=
ENST00000649823.1:n.1213C>T
ENST00000650101.1:c.687C>T	ENSP00000496970.1:p.Ala229=
ENST00000650307.1:n.1582C>T
ENST00000652429.1:c.756C>T MANE Select	ENSP00000498786.1:p.Ala252=
ENST00000278715.7:c.756C>T	ENSP00000278715.3:p.Ala252=
ENST00000392841.1:c.705C>T	ENSP00000376584.1:p.Ala235=
ENST00000442944.6:c.705C>T	ENSP00000392041.2:p.Ala235=
ENST00000537841.5:c.705C>T	ENSP00000444730.1:p.Ala235=
ENST00000542044.5:n.1201C>T
ENST00000542729.5:c.601-250C>T	ENSP00000443058.1:n.601-250C>T
ENST00000543090.5:c.663C>T	ENSP00000445429.1:p.Ala221=
ENST00000543543.5:n.1231C>T
ENST00000544182.1:n.971C>T
ENST00000544387.5:c.652-250C>T	ENSP00000438424.1:n.652-250C>T
ENST00000546226.5:n.1284C>T
NM_000190.3:c.756C>T	NP_000181.2:p.Ala252=
NM_001024382.1:c.705C>T	NP_001019553.1:p.Ala235=
NM_001258208.1:c.652-250C>T	NP_001245137.1:n.652-250C>T
NM_001258209.1:c.601-250C>T	NP_001245138.1:n.601-250C>T
XM_005271531.1:c.705C>T	XP_005271588.1:p.Ala235=
XM_005271532.1:c.705C>T	XP_005271589.1:p.Ala235=
XM_005271533.2:c.702C>T	XP_005271590.1:p.Ala234=
XM_011542796.1:c.591C>T	XP_011541098.1:p.Ala197=
NM_000190.4:c.756C>T MANE Select	NP_000181.2:p.Ala252=
NM_001024382.2:c.705C>T	NP_001019553.1:p.Ala235=
XM_005271533.3:c.702C>T	XP_005271590.1:p.Ala234=
XM_017017629.1:c.705C>T	XP_016873118.1:p.Ala235=
XM_024448460.1:c.598-250C>T	XP_024304228.1:n.598-250C>T
NM_001258208.2:c.652-250C>T	NP_001245137.1:n.652-250C>T
NM_001258209.2:c.601-250C>T	NP_001245138.1:n.601-250C>T