Canonical Allele Identifier: CA6314289

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1489767
• ClinVar RCV Id: RCV001983429
• dbSNP Id: rs753675212
• ExAC: 11:118963854 T / C
• gnomAD v2: 11-118963854-T-C
• gnomAD v3: 11-119093144-T-C
• gnomAD v4: 11-119093144-T-C
• MyVariant Identifiers: chr11:g.118963854T>C (hg19) ; chr11:g.119093144T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093144T>C , CM000673.2:g.119093144T>C	GRCh38
NC_000011.9:g.118963854T>C , CM000673.1:g.118963854T>C	GRCh37
NC_000011.8:g.118469064T>C	NCBI36
NG_008093.1:g.13268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.782T>C	ENSP00000509288.1:p.Val261Ala
ENST00000691144.1:n.3162T>C
ENST00000691249.1:n.1771T>C
ENST00000442944.7:c.929T>C	ENSP00000392041.3:p.Val310Ala
ENST00000640813.1:c.*184T>C	ENSP00000491061.1:n.*184T>C
ENST00000648026.1:c.841T>C	ENSP00000498044.1:n.841T>C
ENST00000648374.1:c.896T>C	ENSP00000497255.1:p.Val299Ala
ENST00000650101.1:c.878T>C	ENSP00000496970.1:p.Val293Ala
ENST00000650307.1:n.1773T>C
ENST00000652429.1:c.947T>C MANE Select	ENSP00000498786.1:p.Val316Ala
ENST00000278715.7:c.947T>C	ENSP00000278715.3:p.Val316Ala
ENST00000392841.1:c.896T>C	ENSP00000376584.1:p.Val299Ala
ENST00000442944.6:c.896T>C	ENSP00000392041.2:p.Val299Ala
ENST00000537841.5:c.896T>C	ENSP00000444730.1:p.Val299Ala
ENST00000539045.1:n.446T>C
ENST00000542044.5:n.1392T>C
ENST00000542729.5:c.776T>C	ENSP00000443058.1:p.Val259Ala
ENST00000543090.5:c.854T>C	ENSP00000445429.1:p.Val285Ala
ENST00000543543.5:n.1422T>C
ENST00000544182.1:n.1396T>C
ENST00000544387.5:c.827T>C	ENSP00000438424.1:p.Val276Ala
ENST00000546226.5:n.1709T>C
NM_000190.3:c.947T>C	NP_000181.2:p.Val316Ala
NM_001024382.1:c.896T>C	NP_001019553.1:p.Val299Ala
NM_001258208.1:c.827T>C	NP_001245137.1:p.Val276Ala
NM_001258209.1:c.776T>C	NP_001245138.1:p.Val259Ala
XM_005271531.1:c.896T>C	XP_005271588.1:p.Val299Ala
XM_005271532.1:c.896T>C	XP_005271589.1:p.Val299Ala
XM_005271533.2:c.893T>C	XP_005271590.1:p.Val298Ala
XM_011542796.1:c.782T>C	XP_011541098.1:p.Val261Ala
NM_000190.4:c.947T>C MANE Select	NP_000181.2:p.Val316Ala
NM_001024382.2:c.896T>C	NP_001019553.1:p.Val299Ala
XM_005271533.3:c.893T>C	XP_005271590.1:p.Val298Ala
XM_017017629.1:c.896T>C	XP_016873118.1:p.Val299Ala
XM_024448460.1:c.773T>C	XP_024304228.1:p.Val258Ala
NM_001258208.2:c.827T>C	NP_001245137.1:p.Val276Ala
NM_001258209.2:c.776T>C	NP_001245138.1:p.Val259Ala