Canonical Allele Identifier: CA251845

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1486
• ClinVar RCV Id: RCV000001551 ; RCV001389642 ; RCV003924793
• dbSNP Id: rs118204120
• gnomAD v4: 11-119090212-C-T
• MyVariant Identifiers: chr11:g.118960922C>T (hg19) ; chr11:g.119090212C>T (hg38)
• PubMed: PMID:2864531 ; PMID:7757070 ; PMID:17298217

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119090212C>T , CM000673.2:g.119090212C>T	GRCh38
NC_000011.9:g.118960922C>T , CM000673.1:g.118960922C>T	GRCh37
NC_000011.8:g.118466132C>T	NCBI36
NG_008093.1:g.10336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.280C>T	ENSP00000509288.1:p.Arg94Ter
ENST00000686690.1:n.1295C>T
ENST00000691144.1:n.2186C>T
ENST00000691249.1:n.1029C>T
ENST00000442944.7:c.427C>T	ENSP00000392041.3:p.Arg143Ter
ENST00000534956.2:n.394C>T
ENST00000536813.6:c.394C>T	ENSP00000438726.2:p.Arg132Ter
ENST00000546302.6:c.367C>T	ENSP00000445599.1:p.Arg123Ter
ENST00000640813.1:c.394C>T	ENSP00000491061.1:p.Arg132Ter
ENST00000648026.1:c.439C>T	ENSP00000498044.1:p.Arg147Ter
ENST00000648374.1:c.394C>T	ENSP00000497255.1:p.Arg132Ter
ENST00000648488.1:c.394C>T	ENSP00000498079.1:p.Arg132Ter
ENST00000649823.1:n.662C>T
ENST00000649868.1:c.*153C>T	ENSP00000497548.1:n.*153C>T
ENST00000650101.1:c.376C>T	ENSP00000496970.1:p.Arg126Ter
ENST00000650307.1:n.1271C>T
ENST00000652429.1:c.445C>T MANE Select	ENSP00000498786.1:p.Arg149Ter
ENST00000278715.7:c.445C>T	ENSP00000278715.3:p.Arg149Ter
ENST00000392841.1:c.394C>T	ENSP00000376584.1:p.Arg132Ter
ENST00000442944.6:c.394C>T	ENSP00000392041.2:p.Arg132Ter
ENST00000534956.1:n.361C>T
ENST00000535253.5:c.394C>T	ENSP00000442079.1:p.Arg132Ter
ENST00000535793.5:c.*340C>T	ENSP00000439904.1:n.*340C>T
ENST00000537841.5:c.394C>T	ENSP00000444730.1:p.Arg132Ter
ENST00000539986.5:c.394C>T	ENSP00000440092.1:p.Arg132Ter
ENST00000542044.5:n.890C>T
ENST00000542345.5:n.583C>T
ENST00000542729.5:c.394C>T	ENSP00000443058.1:p.Arg132Ter
ENST00000542822.5:c.*381C>T	ENSP00000444817.1:n.*381C>T
ENST00000543090.5:c.391C>T	ENSP00000445429.1:p.Arg131Ter
ENST00000543543.5:n.680C>T
ENST00000544360.5:n.413C>T
ENST00000544387.5:c.445C>T	ENSP00000438424.1:p.Arg149Ter
ENST00000545621.5:c.*340C>T	ENSP00000444849.1:n.*340C>T
ENST00000546226.5:n.733C>T
ENST00000546302.5:c.367C>T	ENSP00000445599.1:p.Arg123Ter
NM_000190.3:c.445C>T	NP_000181.2:p.Arg149Ter
NM_001024382.1:c.394C>T	NP_001019553.1:p.Arg132Ter
NM_001258208.1:c.445C>T	NP_001245137.1:p.Arg149Ter
NM_001258209.1:c.394C>T	NP_001245138.1:p.Arg132Ter
XM_005271531.1:c.394C>T	XP_005271588.1:p.Arg132Ter
XM_005271532.1:c.394C>T	XP_005271589.1:p.Arg132Ter
XM_005271533.2:c.391C>T	XP_005271590.1:p.Arg131Ter
XM_011542796.1:c.280C>T	XP_011541098.1:p.Arg94Ter
NM_000190.4:c.445C>T MANE Select	NP_000181.2:p.Arg149Ter
NM_001024382.2:c.394C>T	NP_001019553.1:p.Arg132Ter
XM_005271533.3:c.391C>T	XP_005271590.1:p.Arg131Ter
XM_017017629.1:c.394C>T	XP_016873118.1:p.Arg132Ter
XM_024448460.1:c.391C>T	XP_024304228.1:p.Arg131Ter
NM_001258208.2:c.445C>T	NP_001245137.1:p.Arg149Ter
NM_001258209.2:c.394C>T	NP_001245138.1:p.Arg132Ter