Canonical Allele Identifier: CA382898281

Gene: HMBS

Linked Data

• dbSNP Id: rs1361535003
• gnomAD v2: 11-118963480-A-C
• gnomAD v4: 11-119092770-A-C
• MyVariant Identifiers: chr11:g.118963480A>C (hg19) ; chr11:g.119092770A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092770A>C , CM000673.2:g.119092770A>C	GRCh38
NC_000011.9:g.118963480A>C , CM000673.1:g.118963480A>C	GRCh37
NC_000011.8:g.118468690A>C	NCBI36
NG_008093.1:g.12894A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.619A>C	ENSP00000509288.1:p.Ser207Arg
ENST00000691144.1:n.2999A>C
ENST00000691249.1:n.1608A>C
ENST00000442944.7:c.766A>C	ENSP00000392041.3:p.Ser256Arg
ENST00000640813.1:c.*21A>C	ENSP00000491061.1:n.*21A>C
ENST00000648026.1:c.678A>C	ENSP00000498044.1:n.678A>C
ENST00000648374.1:c.733A>C	ENSP00000497255.1:p.Ser245Arg
ENST00000649823.1:n.1241A>C
ENST00000650101.1:c.715A>C	ENSP00000496970.1:p.Ser239Arg
ENST00000650307.1:n.1610A>C
ENST00000652429.1:c.784A>C MANE Select	ENSP00000498786.1:p.Ser262Arg
ENST00000278715.7:c.784A>C	ENSP00000278715.3:p.Ser262Arg
ENST00000392841.1:c.733A>C	ENSP00000376584.1:p.Ser245Arg
ENST00000442944.6:c.733A>C	ENSP00000392041.2:p.Ser245Arg
ENST00000537841.5:c.733A>C	ENSP00000444730.1:p.Ser245Arg
ENST00000539045.1:n.160A>C
ENST00000542044.5:n.1229A>C
ENST00000542729.5:c.613A>C	ENSP00000443058.1:p.Ser205Arg
ENST00000543090.5:c.691A>C	ENSP00000445429.1:p.Ser231Arg
ENST00000543543.5:n.1259A>C
ENST00000544182.1:n.1233A>C
ENST00000544387.5:c.664A>C	ENSP00000438424.1:p.Ser222Arg
ENST00000546226.5:n.1546A>C
NM_000190.3:c.784A>C	NP_000181.2:p.Ser262Arg
NM_001024382.1:c.733A>C	NP_001019553.1:p.Ser245Arg
NM_001258208.1:c.664A>C	NP_001245137.1:p.Ser222Arg
NM_001258209.1:c.613A>C	NP_001245138.1:p.Ser205Arg
XM_005271531.1:c.733A>C	XP_005271588.1:p.Ser245Arg
XM_005271532.1:c.733A>C	XP_005271589.1:p.Ser245Arg
XM_005271533.2:c.730A>C	XP_005271590.1:p.Ser244Arg
XM_011542796.1:c.619A>C	XP_011541098.1:p.Ser207Arg
NM_000190.4:c.784A>C MANE Select	NP_000181.2:p.Ser262Arg
NM_001024382.2:c.733A>C	NP_001019553.1:p.Ser245Arg
XM_005271533.3:c.730A>C	XP_005271590.1:p.Ser244Arg
XM_017017629.1:c.733A>C	XP_016873118.1:p.Ser245Arg
XM_024448460.1:c.610A>C	XP_024304228.1:p.Ser204Arg
NM_001258208.2:c.664A>C	NP_001245137.1:p.Ser222Arg
NM_001258209.2:c.613A>C	NP_001245138.1:p.Ser205Arg