Canonical Allele Identifier: CA382898850

Gene: HMBS

Linked Data

• ClinVar Variation Id: 652166
• ClinVar RCV Id: RCV000807669 ; RCV003152735
• dbSNP Id: rs1592220915
• MyVariant Identifiers: chr11:g.118963693C>T (hg19) ; chr11:g.119092983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092983C>T , CM000673.2:g.119092983C>T	GRCh38
NC_000011.9:g.118963693C>T , CM000673.1:g.118963693C>T	GRCh37
NC_000011.8:g.118468903C>T	NCBI36
NG_008093.1:g.13107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.709C>T	ENSP00000509288.1:p.Gln237Ter
ENST00000691144.1:n.3089C>T
ENST00000691249.1:n.1698C>T
ENST00000442944.7:c.856C>T	ENSP00000392041.3:p.Gln286Ter
ENST00000640813.1:c.*111C>T	ENSP00000491061.1:n.*111C>T
ENST00000648026.1:c.768C>T	ENSP00000498044.1:n.768C>T
ENST00000648374.1:c.823C>T	ENSP00000497255.1:p.Gln275Ter
ENST00000650101.1:c.805C>T	ENSP00000496970.1:p.Gln269Ter
ENST00000650307.1:n.1700C>T
ENST00000652429.1:c.874C>T MANE Select	ENSP00000498786.1:p.Gln292Ter
ENST00000278715.7:c.874C>T	ENSP00000278715.3:p.Gln292Ter
ENST00000392841.1:c.823C>T	ENSP00000376584.1:p.Gln275Ter
ENST00000442944.6:c.823C>T	ENSP00000392041.2:p.Gln275Ter
ENST00000537841.5:c.823C>T	ENSP00000444730.1:p.Gln275Ter
ENST00000539045.1:n.373C>T
ENST00000542044.5:n.1319C>T
ENST00000542729.5:c.703C>T	ENSP00000443058.1:p.Gln235Ter
ENST00000543090.5:c.781C>T	ENSP00000445429.1:p.Gln261Ter
ENST00000543543.5:n.1349C>T
ENST00000544182.1:n.1323C>T
ENST00000544387.5:c.754C>T	ENSP00000438424.1:p.Gln252Ter
ENST00000546226.5:n.1636C>T
NM_000190.3:c.874C>T	NP_000181.2:p.Gln292Ter
NM_001024382.1:c.823C>T	NP_001019553.1:p.Gln275Ter
NM_001258208.1:c.754C>T	NP_001245137.1:p.Gln252Ter
NM_001258209.1:c.703C>T	NP_001245138.1:p.Gln235Ter
XM_005271531.1:c.823C>T	XP_005271588.1:p.Gln275Ter
XM_005271532.1:c.823C>T	XP_005271589.1:p.Gln275Ter
XM_005271533.2:c.820C>T	XP_005271590.1:p.Gln274Ter
XM_011542796.1:c.709C>T	XP_011541098.1:p.Gln237Ter
NM_000190.4:c.874C>T MANE Select	NP_000181.2:p.Gln292Ter
NM_001024382.2:c.823C>T	NP_001019553.1:p.Gln275Ter
XM_005271533.3:c.820C>T	XP_005271590.1:p.Gln274Ter
XM_017017629.1:c.823C>T	XP_016873118.1:p.Gln275Ter
XM_024448460.1:c.700C>T	XP_024304228.1:p.Gln234Ter
NM_001258208.2:c.754C>T	NP_001245137.1:p.Gln252Ter
NM_001258209.2:c.703C>T	NP_001245138.1:p.Gln235Ter