Canonical Allele Identifier: CA382898412

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1407099
• ClinVar RCV Id: RCV001918261
• dbSNP Id: rs2134881991
• gnomAD v4: 11-119092792-C-T
• MyVariant Identifiers: chr11:g.118963502C>T (hg19) ; chr11:g.119092792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092792C>T , CM000673.2:g.119092792C>T	GRCh38
NC_000011.9:g.118963502C>T , CM000673.1:g.118963502C>T	GRCh37
NC_000011.8:g.118468712C>T	NCBI36
NG_008093.1:g.12916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.641C>T	ENSP00000509288.1:p.Thr214Ile
ENST00000691144.1:n.3021C>T
ENST00000691249.1:n.1630C>T
ENST00000442944.7:c.788C>T	ENSP00000392041.3:p.Thr263Ile
ENST00000640813.1:c.*43C>T	ENSP00000491061.1:n.*43C>T
ENST00000648026.1:c.700C>T	ENSP00000498044.1:n.700C>T
ENST00000648374.1:c.755C>T	ENSP00000497255.1:p.Thr252Ile
ENST00000649823.1:n.1263C>T
ENST00000650101.1:c.737C>T	ENSP00000496970.1:p.Thr246Ile
ENST00000650307.1:n.1632C>T
ENST00000652429.1:c.806C>T MANE Select	ENSP00000498786.1:p.Thr269Ile
ENST00000278715.7:c.806C>T	ENSP00000278715.3:p.Thr269Ile
ENST00000392841.1:c.755C>T	ENSP00000376584.1:p.Thr252Ile
ENST00000442944.6:c.755C>T	ENSP00000392041.2:p.Thr252Ile
ENST00000537841.5:c.755C>T	ENSP00000444730.1:p.Thr252Ile
ENST00000539045.1:n.182C>T
ENST00000542044.5:n.1251C>T
ENST00000542729.5:c.635C>T	ENSP00000443058.1:p.Thr212Ile
ENST00000543090.5:c.713C>T	ENSP00000445429.1:p.Thr238Ile
ENST00000543543.5:n.1281C>T
ENST00000544182.1:n.1255C>T
ENST00000544387.5:c.686C>T	ENSP00000438424.1:p.Thr229Ile
ENST00000546226.5:n.1568C>T
NM_000190.3:c.806C>T	NP_000181.2:p.Thr269Ile
NM_001024382.1:c.755C>T	NP_001019553.1:p.Thr252Ile
NM_001258208.1:c.686C>T	NP_001245137.1:p.Thr229Ile
NM_001258209.1:c.635C>T	NP_001245138.1:p.Thr212Ile
XM_005271531.1:c.755C>T	XP_005271588.1:p.Thr252Ile
XM_005271532.1:c.755C>T	XP_005271589.1:p.Thr252Ile
XM_005271533.2:c.752C>T	XP_005271590.1:p.Thr251Ile
XM_011542796.1:c.641C>T	XP_011541098.1:p.Thr214Ile
NM_000190.4:c.806C>T MANE Select	NP_000181.2:p.Thr269Ile
NM_001024382.2:c.755C>T	NP_001019553.1:p.Thr252Ile
XM_005271533.3:c.752C>T	XP_005271590.1:p.Thr251Ile
XM_017017629.1:c.755C>T	XP_016873118.1:p.Thr252Ile
XM_024448460.1:c.632C>T	XP_024304228.1:p.Thr211Ile
NM_001258208.2:c.686C>T	NP_001245137.1:p.Thr229Ile
NM_001258209.2:c.635C>T	NP_001245138.1:p.Thr212Ile