Canonical Allele Identifier: CA229597221

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1631089
• ClinVar RCV Id: RCV002123789
• dbSNP Id: rs947077287
• gnomAD v2: 11-118963831-C-T
• gnomAD v3: 11-119093121-C-T
• gnomAD v4: 11-119093121-C-T
• MyVariant Identifiers: chr11:g.118963831C>T (hg19) ; chr11:g.119093121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093121C>T , CM000673.2:g.119093121C>T	GRCh38
NC_000011.9:g.118963831C>T , CM000673.1:g.118963831C>T	GRCh37
NC_000011.8:g.118469041C>T	NCBI36
NG_008093.1:g.13245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.759C>T	ENSP00000509288.1:p.Gly253=
ENST00000691144.1:n.3139C>T
ENST00000691249.1:n.1748C>T
ENST00000442944.7:c.906C>T	ENSP00000392041.3:p.Gly302=
ENST00000640813.1:c.*161C>T	ENSP00000491061.1:n.*161C>T
ENST00000648026.1:c.818C>T	ENSP00000498044.1:n.818C>T
ENST00000648374.1:c.873C>T	ENSP00000497255.1:p.Gly291=
ENST00000650101.1:c.855C>T	ENSP00000496970.1:p.Gly285=
ENST00000650307.1:n.1750C>T
ENST00000652429.1:c.924C>T MANE Select	ENSP00000498786.1:p.Gly308=
ENST00000278715.7:c.924C>T	ENSP00000278715.3:p.Gly308=
ENST00000392841.1:c.873C>T	ENSP00000376584.1:p.Gly291=
ENST00000442944.6:c.873C>T	ENSP00000392041.2:p.Gly291=
ENST00000537841.5:c.873C>T	ENSP00000444730.1:p.Gly291=
ENST00000539045.1:n.423C>T
ENST00000542044.5:n.1369C>T
ENST00000542729.5:c.753C>T	ENSP00000443058.1:p.Gly251=
ENST00000543090.5:c.831C>T	ENSP00000445429.1:p.Gly277=
ENST00000543543.5:n.1399C>T
ENST00000544182.1:n.1373C>T
ENST00000544387.5:c.804C>T	ENSP00000438424.1:p.Gly268=
ENST00000546226.5:n.1686C>T
NM_000190.3:c.924C>T	NP_000181.2:p.Gly308=
NM_001024382.1:c.873C>T	NP_001019553.1:p.Gly291=
NM_001258208.1:c.804C>T	NP_001245137.1:p.Gly268=
NM_001258209.1:c.753C>T	NP_001245138.1:p.Gly251=
XM_005271531.1:c.873C>T	XP_005271588.1:p.Gly291=
XM_005271532.1:c.873C>T	XP_005271589.1:p.Gly291=
XM_005271533.2:c.870C>T	XP_005271590.1:p.Gly290=
XM_011542796.1:c.759C>T	XP_011541098.1:p.Gly253=
NM_000190.4:c.924C>T MANE Select	NP_000181.2:p.Gly308=
NM_001024382.2:c.873C>T	NP_001019553.1:p.Gly291=
XM_005271533.3:c.870C>T	XP_005271590.1:p.Gly290=
XM_017017629.1:c.873C>T	XP_016873118.1:p.Gly291=
XM_024448460.1:c.750C>T	XP_024304228.1:p.Gly250=
NM_001258208.2:c.804C>T	NP_001245137.1:p.Gly268=
NM_001258209.2:c.753C>T	NP_001245138.1:p.Gly251=