Canonical Allele Identifier: CA229597209

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2824953
• ClinVar RCV Id: RCV003678405
• dbSNP Id: rs914319098
• gnomAD v2: 11-118963822-T-C
• MyVariant Identifiers: chr11:g.118963822T>C (hg19) ; chr11:g.119093112T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093112T>C , CM000673.2:g.119093112T>C	GRCh38
NC_000011.9:g.118963822T>C , CM000673.1:g.118963822T>C	GRCh37
NC_000011.8:g.118469032T>C	NCBI36
NG_008093.1:g.13236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.750T>C	ENSP00000509288.1:p.His250=
ENST00000691144.1:n.3130T>C
ENST00000691249.1:n.1739T>C
ENST00000442944.7:c.897T>C	ENSP00000392041.3:p.His299=
ENST00000640813.1:c.*152T>C	ENSP00000491061.1:n.*152T>C
ENST00000648026.1:c.809T>C	ENSP00000498044.1:n.809T>C
ENST00000648374.1:c.864T>C	ENSP00000497255.1:p.His288=
ENST00000650101.1:c.846T>C	ENSP00000496970.1:p.His282=
ENST00000650307.1:n.1741T>C
ENST00000652429.1:c.915T>C MANE Select	ENSP00000498786.1:p.His305=
ENST00000278715.7:c.915T>C	ENSP00000278715.3:p.His305=
ENST00000392841.1:c.864T>C	ENSP00000376584.1:p.His288=
ENST00000442944.6:c.864T>C	ENSP00000392041.2:p.His288=
ENST00000537841.5:c.864T>C	ENSP00000444730.1:p.His288=
ENST00000539045.1:n.414T>C
ENST00000542044.5:n.1360T>C
ENST00000542729.5:c.744T>C	ENSP00000443058.1:p.His248=
ENST00000543090.5:c.822T>C	ENSP00000445429.1:p.His274=
ENST00000543543.5:n.1390T>C
ENST00000544182.1:n.1364T>C
ENST00000544387.5:c.795T>C	ENSP00000438424.1:p.His265=
ENST00000546226.5:n.1677T>C
NM_000190.3:c.915T>C	NP_000181.2:p.His305=
NM_001024382.1:c.864T>C	NP_001019553.1:p.His288=
NM_001258208.1:c.795T>C	NP_001245137.1:p.His265=
NM_001258209.1:c.744T>C	NP_001245138.1:p.His248=
XM_005271531.1:c.864T>C	XP_005271588.1:p.His288=
XM_005271532.1:c.864T>C	XP_005271589.1:p.His288=
XM_005271533.2:c.861T>C	XP_005271590.1:p.His287=
XM_011542796.1:c.750T>C	XP_011541098.1:p.His250=
NM_000190.4:c.915T>C MANE Select	NP_000181.2:p.His305=
NM_001024382.2:c.864T>C	NP_001019553.1:p.His288=
XM_005271533.3:c.861T>C	XP_005271590.1:p.His287=
XM_017017629.1:c.864T>C	XP_016873118.1:p.His288=
XM_024448460.1:c.741T>C	XP_024304228.1:p.His247=
NM_001258208.2:c.795T>C	NP_001245137.1:p.His265=
NM_001258209.2:c.744T>C	NP_001245138.1:p.His248=