Canonical Allele Identifier: CA382897201

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1030658
• ClinVar RCV Id: RCV001332262
• dbSNP Id: rs963558406
• MyVariant Identifiers: chr11:g.118963133T>C (hg19) ; chr11:g.119092423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092423T>C , CM000673.2:g.119092423T>C	GRCh38
NC_000011.9:g.118963133T>C , CM000673.1:g.118963133T>C	GRCh37
NC_000011.8:g.118468343T>C	NCBI36
NG_008093.1:g.12547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.506T>C	ENSP00000509288.1:p.Val169Ala
ENST00000691144.1:n.2652T>C
ENST00000691249.1:n.1495T>C
ENST00000442944.7:c.653T>C	ENSP00000392041.3:p.Val218Ala
ENST00000536813.6:c.620T>C	ENSP00000438726.2:p.Val207Ala
ENST00000640813.1:c.481T>C	ENSP00000491061.1:p.Cys161Arg
ENST00000648026.1:c.565T>C	ENSP00000498044.1:p.Cys189Arg
ENST00000648374.1:c.620T>C	ENSP00000497255.1:p.Val207Ala
ENST00000649823.1:n.1128T>C
ENST00000650101.1:c.602T>C	ENSP00000496970.1:p.Val201Ala
ENST00000650307.1:n.1497T>C
ENST00000652429.1:c.671T>C MANE Select	ENSP00000498786.1:p.Val224Ala
ENST00000278715.7:c.671T>C	ENSP00000278715.3:p.Val224Ala
ENST00000392841.1:c.620T>C	ENSP00000376584.1:p.Val207Ala
ENST00000442944.6:c.620T>C	ENSP00000392041.2:p.Val207Ala
ENST00000537841.5:c.620T>C	ENSP00000444730.1:p.Val207Ala
ENST00000542044.5:n.1116T>C
ENST00000542729.5:c.600+260T>C	ENSP00000443058.1:n.600+260T>C
ENST00000543090.5:c.578T>C	ENSP00000445429.1:p.Val193Ala
ENST00000543543.5:n.1146T>C
ENST00000544182.1:n.886T>C
ENST00000544387.5:c.651+260T>C	ENSP00000438424.1:n.651+260T>C
ENST00000545621.5:c.*806T>C	ENSP00000444849.1:n.*806T>C
ENST00000546226.5:n.1199T>C
NM_000190.3:c.671T>C	NP_000181.2:p.Val224Ala
NM_001024382.1:c.620T>C	NP_001019553.1:p.Val207Ala
NM_001258208.1:c.651+260T>C	NP_001245137.1:n.651+260T>C
NM_001258209.1:c.600+260T>C	NP_001245138.1:n.600+260T>C
XM_005271531.1:c.620T>C	XP_005271588.1:p.Val207Ala
XM_005271532.1:c.620T>C	XP_005271589.1:p.Val207Ala
XM_005271533.2:c.617T>C	XP_005271590.1:p.Val206Ala
XM_011542796.1:c.506T>C	XP_011541098.1:p.Val169Ala
NM_000190.4:c.671T>C MANE Select	NP_000181.2:p.Val224Ala
NM_001024382.2:c.620T>C	NP_001019553.1:p.Val207Ala
XM_005271533.3:c.617T>C	XP_005271590.1:p.Val206Ala
XM_017017629.1:c.620T>C	XP_016873118.1:p.Val207Ala
XM_024448460.1:c.597+260T>C	XP_024304228.1:n.597+260T>C
NM_001258208.2:c.651+260T>C	NP_001245137.1:n.651+260T>C
NM_001258209.2:c.600+260T>C	NP_001245138.1:n.600+260T>C