Canonical Allele Identifier: CA6314253

Gene: HMBS

Linked Data

• dbSNP Id: rs770759914
• ExAC: 11:118963689 C / T
• gnomAD v2: 11-118963689-C-T
• gnomAD v4: 11-119092979-C-T
• MyVariant Identifiers: chr11:g.118963689C>T (hg19) ; chr11:g.119092979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092979C>T , CM000673.2:g.119092979C>T	GRCh38
NC_000011.9:g.118963689C>T , CM000673.1:g.118963689C>T	GRCh37
NC_000011.8:g.118468899C>T	NCBI36
NG_008093.1:g.13103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.705C>T	ENSP00000509288.1:p.Ser235=
ENST00000691144.1:n.3085C>T
ENST00000691249.1:n.1694C>T
ENST00000442944.7:c.852C>T	ENSP00000392041.3:p.Ser284=
ENST00000640813.1:c.*107C>T	ENSP00000491061.1:n.*107C>T
ENST00000648026.1:c.764C>T	ENSP00000498044.1:n.764C>T
ENST00000648374.1:c.819C>T	ENSP00000497255.1:p.Ser273=
ENST00000650101.1:c.801C>T	ENSP00000496970.1:p.Ser267=
ENST00000650307.1:n.1696C>T
ENST00000652429.1:c.870C>T MANE Select	ENSP00000498786.1:p.Ser290=
ENST00000278715.7:c.870C>T	ENSP00000278715.3:p.Ser290=
ENST00000392841.1:c.819C>T	ENSP00000376584.1:p.Ser273=
ENST00000442944.6:c.819C>T	ENSP00000392041.2:p.Ser273=
ENST00000537841.5:c.819C>T	ENSP00000444730.1:p.Ser273=
ENST00000539045.1:n.369C>T
ENST00000542044.5:n.1315C>T
ENST00000542729.5:c.699C>T	ENSP00000443058.1:p.Ser233=
ENST00000543090.5:c.777C>T	ENSP00000445429.1:p.Ser259=
ENST00000543543.5:n.1345C>T
ENST00000544182.1:n.1319C>T
ENST00000544387.5:c.750C>T	ENSP00000438424.1:p.Ser250=
ENST00000546226.5:n.1632C>T
NM_000190.3:c.870C>T	NP_000181.2:p.Ser290=
NM_001024382.1:c.819C>T	NP_001019553.1:p.Ser273=
NM_001258208.1:c.750C>T	NP_001245137.1:p.Ser250=
NM_001258209.1:c.699C>T	NP_001245138.1:p.Ser233=
XM_005271531.1:c.819C>T	XP_005271588.1:p.Ser273=
XM_005271532.1:c.819C>T	XP_005271589.1:p.Ser273=
XM_005271533.2:c.816C>T	XP_005271590.1:p.Ser272=
XM_011542796.1:c.705C>T	XP_011541098.1:p.Ser235=
NM_000190.4:c.870C>T MANE Select	NP_000181.2:p.Ser290=
NM_001024382.2:c.819C>T	NP_001019553.1:p.Ser273=
XM_005271533.3:c.816C>T	XP_005271590.1:p.Ser272=
XM_017017629.1:c.819C>T	XP_016873118.1:p.Ser273=
XM_024448460.1:c.696C>T	XP_024304228.1:p.Ser232=
NM_001258208.2:c.750C>T	NP_001245137.1:p.Ser250=
NM_001258209.2:c.699C>T	NP_001245138.1:p.Ser233=