Canonical Allele Identifier: CA6314295

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1975233
• ClinVar RCV Id: RCV002755572
• dbSNP Id: rs769145191
• ExAC: 11:118963876 T / C
• gnomAD v2: 11-118963876-T-C
• gnomAD v4: 11-119093166-T-C
• MyVariant Identifiers: chr11:g.118963876T>C (hg19) ; chr11:g.119093166T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093166T>C , CM000673.2:g.119093166T>C	GRCh38
NC_000011.9:g.118963876T>C , CM000673.1:g.118963876T>C	GRCh37
NC_000011.8:g.118469086T>C	NCBI36
NG_008093.1:g.13290T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.804T>C	ENSP00000509288.1:p.Ile268=
ENST00000691144.1:n.3184T>C
ENST00000691249.1:n.1793T>C
ENST00000442944.7:c.951T>C	ENSP00000392041.3:p.Ile317=
ENST00000640813.1:c.*206T>C	ENSP00000491061.1:n.*206T>C
ENST00000648026.1:c.863T>C	ENSP00000498044.1:n.863T>C
ENST00000648374.1:c.918T>C	ENSP00000497255.1:p.Ile306=
ENST00000650101.1:c.900T>C	ENSP00000496970.1:p.Ile300=
ENST00000650307.1:n.1795T>C
ENST00000652429.1:c.969T>C MANE Select	ENSP00000498786.1:p.Ile323=
ENST00000278715.7:c.969T>C	ENSP00000278715.3:p.Ile323=
ENST00000392841.1:c.918T>C	ENSP00000376584.1:p.Ile306=
ENST00000442944.6:c.918T>C	ENSP00000392041.2:p.Ile306=
ENST00000537841.5:c.918T>C	ENSP00000444730.1:p.Ile306=
ENST00000539045.1:n.468T>C
ENST00000542044.5:n.1414T>C
ENST00000542729.5:c.798T>C	ENSP00000443058.1:p.Ile266=
ENST00000543090.5:c.876T>C	ENSP00000445429.1:p.Ile292=
ENST00000543543.5:n.1444T>C
ENST00000544182.1:n.1418T>C
ENST00000544387.5:c.849T>C	ENSP00000438424.1:p.Ile283=
ENST00000546226.5:n.1731T>C
NM_000190.3:c.969T>C	NP_000181.2:p.Ile323=
NM_001024382.1:c.918T>C	NP_001019553.1:p.Ile306=
NM_001258208.1:c.849T>C	NP_001245137.1:p.Ile283=
NM_001258209.1:c.798T>C	NP_001245138.1:p.Ile266=
XM_005271531.1:c.918T>C	XP_005271588.1:p.Ile306=
XM_005271532.1:c.918T>C	XP_005271589.1:p.Ile306=
XM_005271533.2:c.915T>C	XP_005271590.1:p.Ile305=
XM_011542796.1:c.804T>C	XP_011541098.1:p.Ile268=
NM_000190.4:c.969T>C MANE Select	NP_000181.2:p.Ile323=
NM_001024382.2:c.918T>C	NP_001019553.1:p.Ile306=
XM_005271533.3:c.915T>C	XP_005271590.1:p.Ile305=
XM_017017629.1:c.918T>C	XP_016873118.1:p.Ile306=
XM_024448460.1:c.795T>C	XP_024304228.1:p.Ile265=
NM_001258208.2:c.849T>C	NP_001245137.1:p.Ile283=
NM_001258209.2:c.798T>C	NP_001245138.1:p.Ile266=