Canonical Allele Identifier: CA382898288

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2124557
• ClinVar RCV Id: RCV003039671
• dbSNP Id: rs1415686341
• MyVariant Identifiers: chr11:g.118963482T>A (hg19) ; chr11:g.119092772T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092772T>A , CM000673.2:g.119092772T>A	GRCh38
NC_000011.9:g.118963482T>A , CM000673.1:g.118963482T>A	GRCh37
NC_000011.8:g.118468692T>A	NCBI36
NG_008093.1:g.12896T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.621T>A	ENSP00000509288.1:p.Ser207Arg
ENST00000691144.1:n.3001T>A
ENST00000691249.1:n.1610T>A
ENST00000442944.7:c.768T>A	ENSP00000392041.3:p.Ser256Arg
ENST00000640813.1:c.*23T>A	ENSP00000491061.1:n.*23T>A
ENST00000648026.1:c.680T>A	ENSP00000498044.1:n.680T>A
ENST00000648374.1:c.735T>A	ENSP00000497255.1:p.Ser245Arg
ENST00000649823.1:n.1243T>A
ENST00000650101.1:c.717T>A	ENSP00000496970.1:p.Ser239Arg
ENST00000650307.1:n.1612T>A
ENST00000652429.1:c.786T>A MANE Select	ENSP00000498786.1:p.Ser262Arg
ENST00000278715.7:c.786T>A	ENSP00000278715.3:p.Ser262Arg
ENST00000392841.1:c.735T>A	ENSP00000376584.1:p.Ser245Arg
ENST00000442944.6:c.735T>A	ENSP00000392041.2:p.Ser245Arg
ENST00000537841.5:c.735T>A	ENSP00000444730.1:p.Ser245Arg
ENST00000539045.1:n.162T>A
ENST00000542044.5:n.1231T>A
ENST00000542729.5:c.615T>A	ENSP00000443058.1:p.Ser205Arg
ENST00000543090.5:c.693T>A	ENSP00000445429.1:p.Ser231Arg
ENST00000543543.5:n.1261T>A
ENST00000544182.1:n.1235T>A
ENST00000544387.5:c.666T>A	ENSP00000438424.1:p.Ser222Arg
ENST00000546226.5:n.1548T>A
NM_000190.3:c.786T>A	NP_000181.2:p.Ser262Arg
NM_001024382.1:c.735T>A	NP_001019553.1:p.Ser245Arg
NM_001258208.1:c.666T>A	NP_001245137.1:p.Ser222Arg
NM_001258209.1:c.615T>A	NP_001245138.1:p.Ser205Arg
XM_005271531.1:c.735T>A	XP_005271588.1:p.Ser245Arg
XM_005271532.1:c.735T>A	XP_005271589.1:p.Ser245Arg
XM_005271533.2:c.732T>A	XP_005271590.1:p.Ser244Arg
XM_011542796.1:c.621T>A	XP_011541098.1:p.Ser207Arg
NM_000190.4:c.786T>A MANE Select	NP_000181.2:p.Ser262Arg
NM_001024382.2:c.735T>A	NP_001019553.1:p.Ser245Arg
XM_005271533.3:c.732T>A	XP_005271590.1:p.Ser244Arg
XM_017017629.1:c.735T>A	XP_016873118.1:p.Ser245Arg
XM_024448460.1:c.612T>A	XP_024304228.1:p.Ser204Arg
NM_001258208.2:c.666T>A	NP_001245137.1:p.Ser222Arg
NM_001258209.2:c.615T>A	NP_001245138.1:p.Ser205Arg