Canonical Allele Identifier: CA382899194

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963849G>C (hg19) ; chr11:g.119093139G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093139G>C , CM000673.2:g.119093139G>C	GRCh38
NC_000011.9:g.118963849G>C , CM000673.1:g.118963849G>C	GRCh37
NC_000011.8:g.118469059G>C	NCBI36
NG_008093.1:g.13263G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.777G>C	ENSP00000509288.1:p.Gln259His
ENST00000691144.1:n.3157G>C
ENST00000691249.1:n.1766G>C
ENST00000442944.7:c.924G>C	ENSP00000392041.3:p.Gln308His
ENST00000640813.1:c.*179G>C	ENSP00000491061.1:n.*179G>C
ENST00000648026.1:c.836G>C	ENSP00000498044.1:n.836G>C
ENST00000648374.1:c.891G>C	ENSP00000497255.1:p.Gln297His
ENST00000650101.1:c.873G>C	ENSP00000496970.1:p.Gln291His
ENST00000650307.1:n.1768G>C
ENST00000652429.1:c.942G>C MANE Select	ENSP00000498786.1:p.Gln314His
ENST00000278715.7:c.942G>C	ENSP00000278715.3:p.Gln314His
ENST00000392841.1:c.891G>C	ENSP00000376584.1:p.Gln297His
ENST00000442944.6:c.891G>C	ENSP00000392041.2:p.Gln297His
ENST00000537841.5:c.891G>C	ENSP00000444730.1:p.Gln297His
ENST00000539045.1:n.441G>C
ENST00000542044.5:n.1387G>C
ENST00000542729.5:c.771G>C	ENSP00000443058.1:p.Gln257His
ENST00000543090.5:c.849G>C	ENSP00000445429.1:p.Gln283His
ENST00000543543.5:n.1417G>C
ENST00000544182.1:n.1391G>C
ENST00000544387.5:c.822G>C	ENSP00000438424.1:p.Gln274His
ENST00000546226.5:n.1704G>C
NM_000190.3:c.942G>C	NP_000181.2:p.Gln314His
NM_001024382.1:c.891G>C	NP_001019553.1:p.Gln297His
NM_001258208.1:c.822G>C	NP_001245137.1:p.Gln274His
NM_001258209.1:c.771G>C	NP_001245138.1:p.Gln257His
XM_005271531.1:c.891G>C	XP_005271588.1:p.Gln297His
XM_005271532.1:c.891G>C	XP_005271589.1:p.Gln297His
XM_005271533.2:c.888G>C	XP_005271590.1:p.Gln296His
XM_011542796.1:c.777G>C	XP_011541098.1:p.Gln259His
NM_000190.4:c.942G>C MANE Select	NP_000181.2:p.Gln314His
NM_001024382.2:c.891G>C	NP_001019553.1:p.Gln297His
XM_005271533.3:c.888G>C	XP_005271590.1:p.Gln296His
XM_017017629.1:c.891G>C	XP_016873118.1:p.Gln297His
XM_024448460.1:c.768G>C	XP_024304228.1:p.Gln256His
NM_001258208.2:c.822G>C	NP_001245137.1:p.Gln274His
NM_001258209.2:c.771G>C	NP_001245138.1:p.Gln257His