Canonical Allele Identifier: CA382898812

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2895844
• ClinVar RCV Id: RCV003730598
• gnomAD v4: 11-119092975-A-C
• MyVariant Identifiers: chr11:g.118963685A>C (hg19) ; chr11:g.119092975A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092975A>C , CM000673.2:g.119092975A>C	GRCh38
NC_000011.9:g.118963685A>C , CM000673.1:g.118963685A>C	GRCh37
NC_000011.8:g.118468895A>C	NCBI36
NG_008093.1:g.13099A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.701A>C	ENSP00000509288.1:p.Asp234Ala
ENST00000691144.1:n.3081A>C
ENST00000691249.1:n.1690A>C
ENST00000442944.7:c.848A>C	ENSP00000392041.3:p.Asp283Ala
ENST00000640813.1:c.*103A>C	ENSP00000491061.1:n.*103A>C
ENST00000648026.1:c.760A>C	ENSP00000498044.1:n.760A>C
ENST00000648374.1:c.815A>C	ENSP00000497255.1:p.Asp272Ala
ENST00000650101.1:c.797A>C	ENSP00000496970.1:p.Asp266Ala
ENST00000650307.1:n.1692A>C
ENST00000652429.1:c.866A>C MANE Select	ENSP00000498786.1:p.Asp289Ala
ENST00000278715.7:c.866A>C	ENSP00000278715.3:p.Asp289Ala
ENST00000392841.1:c.815A>C	ENSP00000376584.1:p.Asp272Ala
ENST00000442944.6:c.815A>C	ENSP00000392041.2:p.Asp272Ala
ENST00000537841.5:c.815A>C	ENSP00000444730.1:p.Asp272Ala
ENST00000539045.1:n.365A>C
ENST00000542044.5:n.1311A>C
ENST00000542729.5:c.695A>C	ENSP00000443058.1:p.Asp232Ala
ENST00000543090.5:c.773A>C	ENSP00000445429.1:p.Asp258Ala
ENST00000543543.5:n.1341A>C
ENST00000544182.1:n.1315A>C
ENST00000544387.5:c.746A>C	ENSP00000438424.1:p.Asp249Ala
ENST00000546226.5:n.1628A>C
NM_000190.3:c.866A>C	NP_000181.2:p.Asp289Ala
NM_001024382.1:c.815A>C	NP_001019553.1:p.Asp272Ala
NM_001258208.1:c.746A>C	NP_001245137.1:p.Asp249Ala
NM_001258209.1:c.695A>C	NP_001245138.1:p.Asp232Ala
XM_005271531.1:c.815A>C	XP_005271588.1:p.Asp272Ala
XM_005271532.1:c.815A>C	XP_005271589.1:p.Asp272Ala
XM_005271533.2:c.812A>C	XP_005271590.1:p.Asp271Ala
XM_011542796.1:c.701A>C	XP_011541098.1:p.Asp234Ala
NM_000190.4:c.866A>C MANE Select	NP_000181.2:p.Asp289Ala
NM_001024382.2:c.815A>C	NP_001019553.1:p.Asp272Ala
XM_005271533.3:c.812A>C	XP_005271590.1:p.Asp271Ala
XM_017017629.1:c.815A>C	XP_016873118.1:p.Asp272Ala
XM_024448460.1:c.692A>C	XP_024304228.1:p.Asp231Ala
NM_001258208.2:c.746A>C	NP_001245137.1:p.Asp249Ala
NM_001258209.2:c.695A>C	NP_001245138.1:p.Asp232Ala