Canonical Allele Identifier: CA6314015

Gene: HMBS

Linked Data

• dbSNP Id: rs756261626
• ExAC: 11:118960469 A / C
• gnomAD v2: 11-118960469-A-C
• gnomAD v4: 11-119089759-A-C
• MyVariant Identifiers: chr11:g.118960469A>C (hg19) ; chr11:g.119089759A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089759A>C , CM000673.2:g.119089759A>C	GRCh38
NC_000011.9:g.118960469A>C , CM000673.1:g.118960469A>C	GRCh37
NC_000011.8:g.118465679A>C	NCBI36
NG_008093.1:g.9883A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.178A>C	ENSP00000509288.1:p.Lys60Gln
ENST00000686690.1:n.964A>C
ENST00000691144.1:n.2084A>C
ENST00000691249.1:n.927A>C
ENST00000442944.7:c.325A>C	ENSP00000392041.3:p.Lys109Gln
ENST00000534956.2:n.292A>C
ENST00000536813.6:c.292A>C	ENSP00000438726.2:p.Lys98Gln
ENST00000546302.6:c.267-231A>C	ENSP00000445599.1:n.267-231A>C
ENST00000640813.1:c.292A>C	ENSP00000491061.1:p.Lys98Gln
ENST00000648026.1:c.337A>C	ENSP00000498044.1:p.Lys113Gln
ENST00000648374.1:c.292A>C	ENSP00000497255.1:p.Lys98Gln
ENST00000648488.1:c.292A>C	ENSP00000498079.1:p.Lys98Gln
ENST00000649823.1:n.560A>C
ENST00000649868.1:c.*51A>C	ENSP00000497548.1:n.*51A>C
ENST00000650101.1:c.274A>C	ENSP00000496970.1:p.Lys92Gln
ENST00000650307.1:n.1169A>C
ENST00000652429.1:c.343A>C MANE Select	ENSP00000498786.1:p.Lys115Gln
ENST00000278715.7:c.343A>C	ENSP00000278715.3:p.Lys115Gln
ENST00000392841.1:c.292A>C	ENSP00000376584.1:p.Lys98Gln
ENST00000442944.6:c.292A>C	ENSP00000392041.2:p.Lys98Gln
ENST00000534956.1:n.259A>C
ENST00000535253.5:c.292A>C	ENSP00000442079.1:p.Lys98Gln
ENST00000535793.5:c.*238A>C	ENSP00000439904.1:n.*238A>C
ENST00000536813.5:c.325A>C	ENSP00000438726.1:p.Lys109Gln
ENST00000537841.5:c.292A>C	ENSP00000444730.1:p.Lys98Gln
ENST00000539986.5:c.292A>C	ENSP00000440092.1:p.Lys98Gln
ENST00000542044.5:n.788A>C
ENST00000542345.5:n.481A>C
ENST00000542729.5:c.292A>C	ENSP00000443058.1:p.Lys98Gln
ENST00000542822.5:c.*279A>C	ENSP00000444817.1:n.*279A>C
ENST00000543090.5:c.289A>C	ENSP00000445429.1:p.Lys97Gln
ENST00000543543.5:n.578A>C
ENST00000543821.5:n.489A>C
ENST00000544360.5:n.311A>C
ENST00000544387.5:c.343A>C	ENSP00000438424.1:p.Lys115Gln
ENST00000545621.5:c.*238A>C	ENSP00000444849.1:n.*238A>C
ENST00000546226.5:n.402A>C
ENST00000546302.5:c.267-231A>C	ENSP00000445599.1:n.267-231A>C
NM_000190.3:c.343A>C	NP_000181.2:p.Lys115Gln
NM_001024382.1:c.292A>C	NP_001019553.1:p.Lys98Gln
NM_001258208.1:c.343A>C	NP_001245137.1:p.Lys115Gln
NM_001258209.1:c.292A>C	NP_001245138.1:p.Lys98Gln
XM_005271531.1:c.292A>C	XP_005271588.1:p.Lys98Gln
XM_005271532.1:c.292A>C	XP_005271589.1:p.Lys98Gln
XM_005271533.2:c.289A>C	XP_005271590.1:p.Lys97Gln
XM_011542796.1:c.178A>C	XP_011541098.1:p.Lys60Gln
NM_000190.4:c.343A>C MANE Select	NP_000181.2:p.Lys115Gln
NM_001024382.2:c.292A>C	NP_001019553.1:p.Lys98Gln
XM_005271533.3:c.289A>C	XP_005271590.1:p.Lys97Gln
XM_017017629.1:c.292A>C	XP_016873118.1:p.Lys98Gln
XM_024448460.1:c.289A>C	XP_024304228.1:p.Lys97Gln
NM_001258208.2:c.343A>C	NP_001245137.1:p.Lys115Gln
NM_001258209.2:c.292A>C	NP_001245138.1:p.Lys98Gln