Canonical Allele Identifier: CA382899213

Gene: HMBS

Linked Data

• dbSNP Id: rs1946326345
• gnomAD v4: 11-119093143-G-C
• MyVariant Identifiers: chr11:g.118963853G>C (hg19) ; chr11:g.119093143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093143G>C , CM000673.2:g.119093143G>C	GRCh38
NC_000011.9:g.118963853G>C , CM000673.1:g.118963853G>C	GRCh37
NC_000011.8:g.118469063G>C	NCBI36
NG_008093.1:g.13267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.781G>C	ENSP00000509288.1:p.Val261Leu
ENST00000691144.1:n.3161G>C
ENST00000691249.1:n.1770G>C
ENST00000442944.7:c.928G>C	ENSP00000392041.3:p.Val310Leu
ENST00000640813.1:c.*183G>C	ENSP00000491061.1:n.*183G>C
ENST00000648026.1:c.840G>C	ENSP00000498044.1:n.840G>C
ENST00000648374.1:c.895G>C	ENSP00000497255.1:p.Val299Leu
ENST00000650101.1:c.877G>C	ENSP00000496970.1:p.Val293Leu
ENST00000650307.1:n.1772G>C
ENST00000652429.1:c.946G>C MANE Select	ENSP00000498786.1:p.Val316Leu
ENST00000278715.7:c.946G>C	ENSP00000278715.3:p.Val316Leu
ENST00000392841.1:c.895G>C	ENSP00000376584.1:p.Val299Leu
ENST00000442944.6:c.895G>C	ENSP00000392041.2:p.Val299Leu
ENST00000537841.5:c.895G>C	ENSP00000444730.1:p.Val299Leu
ENST00000539045.1:n.445G>C
ENST00000542044.5:n.1391G>C
ENST00000542729.5:c.775G>C	ENSP00000443058.1:p.Val259Leu
ENST00000543090.5:c.853G>C	ENSP00000445429.1:p.Val285Leu
ENST00000543543.5:n.1421G>C
ENST00000544182.1:n.1395G>C
ENST00000544387.5:c.826G>C	ENSP00000438424.1:p.Val276Leu
ENST00000546226.5:n.1708G>C
NM_000190.3:c.946G>C	NP_000181.2:p.Val316Leu
NM_001024382.1:c.895G>C	NP_001019553.1:p.Val299Leu
NM_001258208.1:c.826G>C	NP_001245137.1:p.Val276Leu
NM_001258209.1:c.775G>C	NP_001245138.1:p.Val259Leu
XM_005271531.1:c.895G>C	XP_005271588.1:p.Val299Leu
XM_005271532.1:c.895G>C	XP_005271589.1:p.Val299Leu
XM_005271533.2:c.892G>C	XP_005271590.1:p.Val298Leu
XM_011542796.1:c.781G>C	XP_011541098.1:p.Val261Leu
NM_000190.4:c.946G>C MANE Select	NP_000181.2:p.Val316Leu
NM_001024382.2:c.895G>C	NP_001019553.1:p.Val299Leu
XM_005271533.3:c.892G>C	XP_005271590.1:p.Val298Leu
XM_017017629.1:c.895G>C	XP_016873118.1:p.Val299Leu
XM_024448460.1:c.772G>C	XP_024304228.1:p.Val258Leu
NM_001258208.2:c.826G>C	NP_001245137.1:p.Val276Leu
NM_001258209.2:c.775G>C	NP_001245138.1:p.Val259Leu