Canonical Allele Identifier: CA229594006

Gene: HMBS

Linked Data

• dbSNP Id: rs1049324395
• gnomAD v2: 11-118960405-T-C
• gnomAD v4: 11-119089695-T-C
• MyVariant Identifiers: chr11:g.118960405T>C (hg19) ; chr11:g.119089695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089695T>C , CM000673.2:g.119089695T>C	GRCh38
NC_000011.9:g.118960405T>C , CM000673.1:g.118960405T>C	GRCh37
NC_000011.8:g.118465615T>C	NCBI36
NG_008093.1:g.9819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.114T>C	ENSP00000509288.1:p.Val38=
ENST00000686690.1:n.900T>C
ENST00000691144.1:n.2020T>C
ENST00000691249.1:n.863T>C
ENST00000442944.7:c.261T>C	ENSP00000392041.3:p.Val87=
ENST00000534956.2:n.228T>C
ENST00000536813.6:c.228T>C	ENSP00000438726.2:p.Val76=
ENST00000546302.6:c.267-295T>C	ENSP00000445599.1:n.267-295T>C
ENST00000640813.1:c.228T>C	ENSP00000491061.1:p.Val76=
ENST00000648026.1:c.273T>C	ENSP00000498044.1:p.Val91=
ENST00000648374.1:c.228T>C	ENSP00000497255.1:p.Val76=
ENST00000648488.1:c.228T>C	ENSP00000498079.1:p.Val76=
ENST00000649823.1:n.496T>C
ENST00000649868.1:c.134T>C	ENSP00000497548.1:p.Leu45Ser
ENST00000650101.1:c.210T>C	ENSP00000496970.1:p.Val70=
ENST00000650307.1:n.1105T>C
ENST00000652429.1:c.279T>C MANE Select	ENSP00000498786.1:p.Val93=
ENST00000278715.7:c.279T>C	ENSP00000278715.3:p.Val93=
ENST00000392841.1:c.228T>C	ENSP00000376584.1:p.Val76=
ENST00000442944.6:c.228T>C	ENSP00000392041.2:p.Val76=
ENST00000534956.1:n.195T>C
ENST00000535253.5:c.228T>C	ENSP00000442079.1:p.Val76=
ENST00000535793.5:c.*174T>C	ENSP00000439904.1:n.*174T>C
ENST00000536185.5:n.397T>C
ENST00000536813.5:c.261T>C	ENSP00000438726.1:p.Val87=
ENST00000537841.5:c.228T>C	ENSP00000444730.1:p.Val76=
ENST00000539986.5:c.228T>C	ENSP00000440092.1:p.Val76=
ENST00000542044.5:n.724T>C
ENST00000542345.5:n.417T>C
ENST00000542729.5:c.228T>C	ENSP00000443058.1:p.Val76=
ENST00000542822.5:c.*215T>C	ENSP00000444817.1:n.*215T>C
ENST00000543090.5:c.225T>C	ENSP00000445429.1:p.Val75=
ENST00000543543.5:n.514T>C
ENST00000543821.5:n.425T>C
ENST00000544360.5:n.247T>C
ENST00000544387.5:c.279T>C	ENSP00000438424.1:p.Val93=
ENST00000545621.5:c.*174T>C	ENSP00000444849.1:n.*174T>C
ENST00000546226.5:n.338T>C
ENST00000546302.5:c.267-295T>C	ENSP00000445599.1:n.267-295T>C
NM_000190.3:c.279T>C	NP_000181.2:p.Val93=
NM_001024382.1:c.228T>C	NP_001019553.1:p.Val76=
NM_001258208.1:c.279T>C	NP_001245137.1:p.Val93=
NM_001258209.1:c.228T>C	NP_001245138.1:p.Val76=
XM_005271531.1:c.228T>C	XP_005271588.1:p.Val76=
XM_005271532.1:c.228T>C	XP_005271589.1:p.Val76=
XM_005271533.2:c.225T>C	XP_005271590.1:p.Val75=
XM_011542796.1:c.114T>C	XP_011541098.1:p.Val38=
NM_000190.4:c.279T>C MANE Select	NP_000181.2:p.Val93=
NM_001024382.2:c.228T>C	NP_001019553.1:p.Val76=
XM_005271533.3:c.225T>C	XP_005271590.1:p.Val75=
XM_017017629.1:c.228T>C	XP_016873118.1:p.Val76=
XM_024448460.1:c.225T>C	XP_024304228.1:p.Val75=
NM_001258208.2:c.279T>C	NP_001245137.1:p.Val93=
NM_001258209.2:c.228T>C	NP_001245138.1:p.Val76=