Canonical Allele Identifier: CA6314168

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1623752
• ClinVar RCV Id: RCV002110294
• dbSNP Id: rs760296083
• ExAC: 11:118963206 C / T
• gnomAD v2: 11-118963206-C-T
• gnomAD v3: 11-119092496-C-T
• gnomAD v4: 11-119092496-C-T
• MyVariant Identifiers: chr11:g.118963206C>T (hg19) ; chr11:g.119092496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092496C>T , CM000673.2:g.119092496C>T	GRCh38
NC_000011.9:g.118963206C>T , CM000673.1:g.118963206C>T	GRCh37
NC_000011.8:g.118468416C>T	NCBI36
NG_008093.1:g.12620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.579C>T	ENSP00000509288.1:p.Ile193=
ENST00000691144.1:n.2725C>T
ENST00000691249.1:n.1568C>T
ENST00000442944.7:c.726C>T	ENSP00000392041.3:p.Ile242=
ENST00000640813.1:c.554C>T	ENSP00000491061.1:p.Ser185Leu
ENST00000648026.1:c.638C>T	ENSP00000498044.1:p.Ser213Leu
ENST00000648374.1:c.693C>T	ENSP00000497255.1:p.Ile231=
ENST00000649823.1:n.1201C>T
ENST00000650101.1:c.675C>T	ENSP00000496970.1:p.Ile225=
ENST00000650307.1:n.1570C>T
ENST00000652429.1:c.744C>T MANE Select	ENSP00000498786.1:p.Ile248=
ENST00000278715.7:c.744C>T	ENSP00000278715.3:p.Ile248=
ENST00000392841.1:c.693C>T	ENSP00000376584.1:p.Ile231=
ENST00000442944.6:c.693C>T	ENSP00000392041.2:p.Ile231=
ENST00000537841.5:c.693C>T	ENSP00000444730.1:p.Ile231=
ENST00000542044.5:n.1189C>T
ENST00000542729.5:c.601-262C>T	ENSP00000443058.1:n.601-262C>T
ENST00000543090.5:c.651C>T	ENSP00000445429.1:p.Ile217=
ENST00000543543.5:n.1219C>T
ENST00000544182.1:n.959C>T
ENST00000544387.5:c.652-262C>T	ENSP00000438424.1:n.652-262C>T
ENST00000545621.5:c.*879C>T	ENSP00000444849.1:n.*879C>T
ENST00000546226.5:n.1272C>T
NM_000190.3:c.744C>T	NP_000181.2:p.Ile248=
NM_001024382.1:c.693C>T	NP_001019553.1:p.Ile231=
NM_001258208.1:c.652-262C>T	NP_001245137.1:n.652-262C>T
NM_001258209.1:c.601-262C>T	NP_001245138.1:n.601-262C>T
XM_005271531.1:c.693C>T	XP_005271588.1:p.Ile231=
XM_005271532.1:c.693C>T	XP_005271589.1:p.Ile231=
XM_005271533.2:c.690C>T	XP_005271590.1:p.Ile230=
XM_011542796.1:c.579C>T	XP_011541098.1:p.Ile193=
NM_000190.4:c.744C>T MANE Select	NP_000181.2:p.Ile248=
NM_001024382.2:c.693C>T	NP_001019553.1:p.Ile231=
XM_005271533.3:c.690C>T	XP_005271590.1:p.Ile230=
XM_017017629.1:c.693C>T	XP_016873118.1:p.Ile231=
XM_024448460.1:c.598-262C>T	XP_024304228.1:n.598-262C>T
NM_001258208.2:c.652-262C>T	NP_001245137.1:n.652-262C>T
NM_001258209.2:c.601-262C>T	NP_001245138.1:n.601-262C>T