Canonical Allele Identifier: CA382899485

Gene: HMBS

Linked Data

• ClinVar Variation Id: 429442
• ClinVar RCV Id: RCV000494250
• dbSNP Id: rs1131691384
• gnomAD v4: 11-119093177-C-T
• MyVariant Identifiers: chr11:g.118963887C>T (hg19) ; chr11:g.119093177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093177C>T , CM000673.2:g.119093177C>T	GRCh38
NC_000011.9:g.118963887C>T , CM000673.1:g.118963887C>T	GRCh37
NC_000011.8:g.118469097C>T	NCBI36
NG_008093.1:g.13301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.815C>T	ENSP00000509288.1:p.Pro272Leu
ENST00000691144.1:n.3195C>T
ENST00000691249.1:n.1804C>T
ENST00000442944.7:c.962C>T	ENSP00000392041.3:p.Pro321Leu
ENST00000640813.1:c.*217C>T	ENSP00000491061.1:n.*217C>T
ENST00000648026.1:c.874C>T	ENSP00000498044.1:n.874C>T
ENST00000648374.1:c.929C>T	ENSP00000497255.1:p.Pro310Leu
ENST00000650101.1:c.911C>T	ENSP00000496970.1:p.Pro304Leu
ENST00000650307.1:n.1806C>T
ENST00000652429.1:c.980C>T MANE Select	ENSP00000498786.1:p.Pro327Leu
ENST00000278715.7:c.980C>T	ENSP00000278715.3:p.Pro327Leu
ENST00000392841.1:c.929C>T	ENSP00000376584.1:p.Pro310Leu
ENST00000442944.6:c.929C>T	ENSP00000392041.2:p.Pro310Leu
ENST00000537841.5:c.929C>T	ENSP00000444730.1:p.Pro310Leu
ENST00000539045.1:n.479C>T
ENST00000542044.5:n.1425C>T
ENST00000542729.5:c.809C>T	ENSP00000443058.1:p.Pro270Leu
ENST00000543090.5:c.887C>T	ENSP00000445429.1:p.Pro296Leu
ENST00000543543.5:n.1455C>T
ENST00000544182.1:n.1429C>T
ENST00000544387.5:c.860C>T	ENSP00000438424.1:p.Pro287Leu
ENST00000546226.5:n.1742C>T
NM_000190.3:c.980C>T	NP_000181.2:p.Pro327Leu
NM_001024382.1:c.929C>T	NP_001019553.1:p.Pro310Leu
NM_001258208.1:c.860C>T	NP_001245137.1:p.Pro287Leu
NM_001258209.1:c.809C>T	NP_001245138.1:p.Pro270Leu
XM_005271531.1:c.929C>T	XP_005271588.1:p.Pro310Leu
XM_005271532.1:c.929C>T	XP_005271589.1:p.Pro310Leu
XM_005271533.2:c.926C>T	XP_005271590.1:p.Pro309Leu
XM_011542796.1:c.815C>T	XP_011541098.1:p.Pro272Leu
NM_000190.4:c.980C>T MANE Select	NP_000181.2:p.Pro327Leu
NM_001024382.2:c.929C>T	NP_001019553.1:p.Pro310Leu
XM_005271533.3:c.926C>T	XP_005271590.1:p.Pro309Leu
XM_017017629.1:c.929C>T	XP_016873118.1:p.Pro310Leu
XM_024448460.1:c.806C>T	XP_024304228.1:p.Pro269Leu
NM_001258208.2:c.860C>T	NP_001245137.1:p.Pro287Leu
NM_001258209.2:c.809C>T	NP_001245138.1:p.Pro270Leu