Canonical Allele Identifier: CA477128658

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092490-C-T
• MyVariant Identifiers: chr11:g.118963200C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092490C>T , CM000673.2:g.119092490C>T	GRCh38
NC_000011.9:g.118963200C>T , CM000673.1:g.118963200C>T	GRCh37
NC_000011.8:g.118468410C>T	NCBI36
NG_008093.1:g.12614C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.573C>T	ENSP00000509288.1:p.Arg191=
ENST00000691144.1:n.2719C>T
ENST00000691249.1:n.1562C>T
ENST00000442944.7:c.720C>T	ENSP00000392041.3:p.Arg240=
ENST00000640813.1:c.548C>T	ENSP00000491061.1:p.Ala183Val
ENST00000648026.1:c.632C>T	ENSP00000498044.1:p.Ala211Val
ENST00000648374.1:c.687C>T	ENSP00000497255.1:p.Arg229=
ENST00000649823.1:n.1195C>T
ENST00000650101.1:c.669C>T	ENSP00000496970.1:p.Arg223=
ENST00000650307.1:n.1564C>T
ENST00000652429.1:c.738C>T MANE Select	ENSP00000498786.1:p.Arg246=
ENST00000278715.7:c.738C>T	ENSP00000278715.3:p.Arg246=
ENST00000392841.1:c.687C>T	ENSP00000376584.1:p.Arg229=
ENST00000442944.6:c.687C>T	ENSP00000392041.2:p.Arg229=
ENST00000537841.5:c.687C>T	ENSP00000444730.1:p.Arg229=
ENST00000542044.5:n.1183C>T
ENST00000542729.5:c.601-268C>T	ENSP00000443058.1:n.601-268C>T
ENST00000543090.5:c.645C>T	ENSP00000445429.1:p.Arg215=
ENST00000543543.5:n.1213C>T
ENST00000544182.1:n.953C>T
ENST00000544387.5:c.652-268C>T	ENSP00000438424.1:n.652-268C>T
ENST00000545621.5:c.*873C>T	ENSP00000444849.1:n.*873C>T
ENST00000546226.5:n.1266C>T
NM_000190.3:c.738C>T	NP_000181.2:p.Arg246=
NM_001024382.1:c.687C>T	NP_001019553.1:p.Arg229=
NM_001258208.1:c.652-268C>T	NP_001245137.1:n.652-268C>T
NM_001258209.1:c.601-268C>T	NP_001245138.1:n.601-268C>T
XM_005271531.1:c.687C>T	XP_005271588.1:p.Arg229=
XM_005271532.1:c.687C>T	XP_005271589.1:p.Arg229=
XM_005271533.2:c.684C>T	XP_005271590.1:p.Arg228=
XM_011542796.1:c.573C>T	XP_011541098.1:p.Arg191=
NM_000190.4:c.738C>T MANE Select	NP_000181.2:p.Arg246=
NM_001024382.2:c.687C>T	NP_001019553.1:p.Arg229=
XM_005271533.3:c.684C>T	XP_005271590.1:p.Arg228=
XM_017017629.1:c.687C>T	XP_016873118.1:p.Arg229=
XM_024448460.1:c.598-268C>T	XP_024304228.1:n.598-268C>T
NM_001258208.2:c.652-268C>T	NP_001245137.1:n.652-268C>T
NM_001258209.2:c.601-268C>T	NP_001245138.1:n.601-268C>T