Canonical Allele Identifier: CA6314294

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1980824
• ClinVar RCV Id: RCV002780344
• dbSNP Id: rs150428209
• ExAC: 11:118963869 G / C
• gnomAD v2: 11-118963869-G-C
• gnomAD v3: 11-119093159-G-C
• gnomAD v4: 11-119093159-G-C
• MyVariant Identifiers: chr11:g.118963869G>C (hg19) ; chr11:g.119093159G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093159G>C , CM000673.2:g.119093159G>C	GRCh38
NC_000011.9:g.118963869G>C , CM000673.1:g.118963869G>C	GRCh37
NC_000011.8:g.118469079G>C	NCBI36
NG_008093.1:g.13283G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.797G>C	ENSP00000509288.1:p.Arg266Pro
ENST00000691144.1:n.3177G>C
ENST00000691249.1:n.1786G>C
ENST00000442944.7:c.944G>C	ENSP00000392041.3:p.Arg315Pro
ENST00000640813.1:c.*199G>C	ENSP00000491061.1:n.*199G>C
ENST00000648026.1:c.856G>C	ENSP00000498044.1:n.856G>C
ENST00000648374.1:c.911G>C	ENSP00000497255.1:p.Arg304Pro
ENST00000650101.1:c.893G>C	ENSP00000496970.1:p.Arg298Pro
ENST00000650307.1:n.1788G>C
ENST00000652429.1:c.962G>C MANE Select	ENSP00000498786.1:p.Arg321Pro
ENST00000278715.7:c.962G>C	ENSP00000278715.3:p.Arg321Pro
ENST00000392841.1:c.911G>C	ENSP00000376584.1:p.Arg304Pro
ENST00000442944.6:c.911G>C	ENSP00000392041.2:p.Arg304Pro
ENST00000537841.5:c.911G>C	ENSP00000444730.1:p.Arg304Pro
ENST00000539045.1:n.461G>C
ENST00000542044.5:n.1407G>C
ENST00000542729.5:c.791G>C	ENSP00000443058.1:p.Arg264Pro
ENST00000543090.5:c.869G>C	ENSP00000445429.1:p.Arg290Pro
ENST00000543543.5:n.1437G>C
ENST00000544182.1:n.1411G>C
ENST00000544387.5:c.842G>C	ENSP00000438424.1:p.Arg281Pro
ENST00000546226.5:n.1724G>C
NM_000190.3:c.962G>C	NP_000181.2:p.Arg321Pro
NM_001024382.1:c.911G>C	NP_001019553.1:p.Arg304Pro
NM_001258208.1:c.842G>C	NP_001245137.1:p.Arg281Pro
NM_001258209.1:c.791G>C	NP_001245138.1:p.Arg264Pro
XM_005271531.1:c.911G>C	XP_005271588.1:p.Arg304Pro
XM_005271532.1:c.911G>C	XP_005271589.1:p.Arg304Pro
XM_005271533.2:c.908G>C	XP_005271590.1:p.Arg303Pro
XM_011542796.1:c.797G>C	XP_011541098.1:p.Arg266Pro
NM_000190.4:c.962G>C MANE Select	NP_000181.2:p.Arg321Pro
NM_001024382.2:c.911G>C	NP_001019553.1:p.Arg304Pro
XM_005271533.3:c.908G>C	XP_005271590.1:p.Arg303Pro
XM_017017629.1:c.911G>C	XP_016873118.1:p.Arg304Pro
XM_024448460.1:c.788G>C	XP_024304228.1:p.Arg263Pro
NM_001258208.2:c.842G>C	NP_001245137.1:p.Arg281Pro
NM_001258209.2:c.791G>C	NP_001245138.1:p.Arg264Pro