Canonical Allele Identifier: CA382890378

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2832305
• ClinVar RCV Id: RCV003689432
• MyVariant Identifiers: chr11:g.118960395T>C (hg19) ; chr11:g.119089685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089685T>C , CM000673.2:g.119089685T>C	GRCh38
NC_000011.9:g.118960395T>C , CM000673.1:g.118960395T>C	GRCh37
NC_000011.8:g.118465605T>C	NCBI36
NG_008093.1:g.9809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.104T>C	ENSP00000509288.1:p.Val35Ala
ENST00000686690.1:n.890T>C
ENST00000691144.1:n.2010T>C
ENST00000691249.1:n.853T>C
ENST00000442944.7:c.251T>C	ENSP00000392041.3:p.Val84Ala
ENST00000534956.2:n.218T>C
ENST00000536813.6:c.218T>C	ENSP00000438726.2:p.Val73Ala
ENST00000546302.6:c.267-305T>C	ENSP00000445599.1:n.267-305T>C
ENST00000640813.1:c.218T>C	ENSP00000491061.1:p.Val73Ala
ENST00000648026.1:c.263T>C	ENSP00000498044.1:p.Val88Ala
ENST00000648374.1:c.218T>C	ENSP00000497255.1:p.Val73Ala
ENST00000648488.1:c.218T>C	ENSP00000498079.1:p.Val73Ala
ENST00000649823.1:n.486T>C
ENST00000649868.1:c.124T>C	ENSP00000497548.1:p.Trp42Arg
ENST00000650101.1:c.200T>C	ENSP00000496970.1:p.Val67Ala
ENST00000650307.1:n.1095T>C
ENST00000652429.1:c.269T>C MANE Select	ENSP00000498786.1:p.Val90Ala
ENST00000278715.7:c.269T>C	ENSP00000278715.3:p.Val90Ala
ENST00000392841.1:c.218T>C	ENSP00000376584.1:p.Val73Ala
ENST00000442944.6:c.218T>C	ENSP00000392041.2:p.Val73Ala
ENST00000534956.1:n.185T>C
ENST00000535253.5:c.218T>C	ENSP00000442079.1:p.Val73Ala
ENST00000535793.5:c.*164T>C	ENSP00000439904.1:n.*164T>C
ENST00000536185.5:n.387T>C
ENST00000536813.5:c.251T>C	ENSP00000438726.1:p.Val84Ala
ENST00000537841.5:c.218T>C	ENSP00000444730.1:p.Val73Ala
ENST00000539986.5:c.218T>C	ENSP00000440092.1:p.Val73Ala
ENST00000542044.5:n.714T>C
ENST00000542345.5:n.407T>C
ENST00000542729.5:c.218T>C	ENSP00000443058.1:p.Val73Ala
ENST00000542822.5:c.*205T>C	ENSP00000444817.1:n.*205T>C
ENST00000543090.5:c.215T>C	ENSP00000445429.1:p.Val72Ala
ENST00000543543.5:n.504T>C
ENST00000543821.5:n.415T>C
ENST00000544360.5:n.237T>C
ENST00000544387.5:c.269T>C	ENSP00000438424.1:p.Val90Ala
ENST00000545621.5:c.*164T>C	ENSP00000444849.1:n.*164T>C
ENST00000546226.5:n.328T>C
ENST00000546302.5:c.267-305T>C	ENSP00000445599.1:n.267-305T>C
NM_000190.3:c.269T>C	NP_000181.2:p.Val90Ala
NM_001024382.1:c.218T>C	NP_001019553.1:p.Val73Ala
NM_001258208.1:c.269T>C	NP_001245137.1:p.Val90Ala
NM_001258209.1:c.218T>C	NP_001245138.1:p.Val73Ala
XM_005271531.1:c.218T>C	XP_005271588.1:p.Val73Ala
XM_005271532.1:c.218T>C	XP_005271589.1:p.Val73Ala
XM_005271533.2:c.215T>C	XP_005271590.1:p.Val72Ala
XM_011542796.1:c.104T>C	XP_011541098.1:p.Val35Ala
NM_000190.4:c.269T>C MANE Select	NP_000181.2:p.Val90Ala
NM_001024382.2:c.218T>C	NP_001019553.1:p.Val73Ala
XM_005271533.3:c.215T>C	XP_005271590.1:p.Val72Ala
XM_017017629.1:c.218T>C	XP_016873118.1:p.Val73Ala
XM_024448460.1:c.215T>C	XP_024304228.1:p.Val72Ala
NM_001258208.2:c.269T>C	NP_001245137.1:p.Val90Ala
NM_001258209.2:c.218T>C	NP_001245138.1:p.Val73Ala