Canonical Allele Identifier: CA382900057

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963968C>G (hg19) ; chr11:g.119093258C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093258C>G , CM000673.2:g.119093258C>G	GRCh38
NC_000011.9:g.118963968C>G , CM000673.1:g.118963968C>G	GRCh37
NC_000011.8:g.118469178C>G	NCBI36
NG_008093.1:g.13382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.896C>G	ENSP00000509288.1:p.Ala299Gly
ENST00000691144.1:n.3276C>G
ENST00000691249.1:n.1885C>G
ENST00000442944.7:c.1043C>G	ENSP00000392041.3:p.Ala348Gly
ENST00000640813.1:c.*298C>G	ENSP00000491061.1:n.*298C>G
ENST00000648026.1:c.955C>G	ENSP00000498044.1:n.955C>G
ENST00000648374.1:c.1010C>G	ENSP00000497255.1:p.Ala337Gly
ENST00000650101.1:c.992C>G	ENSP00000496970.1:p.Ala331Gly
ENST00000650307.1:n.1887C>G
ENST00000652429.1:c.1061C>G MANE Select	ENSP00000498786.1:p.Ala354Gly
ENST00000278715.7:c.1061C>G	ENSP00000278715.3:p.Ala354Gly
ENST00000392841.1:c.1010C>G	ENSP00000376584.1:p.Ala337Gly
ENST00000442944.6:c.1010C>G	ENSP00000392041.2:p.Ala337Gly
ENST00000537841.5:c.1010C>G	ENSP00000444730.1:p.Ala337Gly
ENST00000539045.1:n.560C>G
ENST00000542044.5:n.1506C>G
ENST00000542729.5:c.890C>G	ENSP00000443058.1:p.Ala297Gly
ENST00000543090.5:c.968C>G	ENSP00000445429.1:p.Ala323Gly
ENST00000543543.5:n.1536C>G
ENST00000544182.1:n.1510C>G
ENST00000544387.5:c.941C>G	ENSP00000438424.1:p.Ala314Gly
ENST00000546226.5:n.1823C>G
NM_000190.3:c.1061C>G	NP_000181.2:p.Ala354Gly
NM_001024382.1:c.1010C>G	NP_001019553.1:p.Ala337Gly
NM_001258208.1:c.941C>G	NP_001245137.1:p.Ala314Gly
NM_001258209.1:c.890C>G	NP_001245138.1:p.Ala297Gly
XM_005271531.1:c.1010C>G	XP_005271588.1:p.Ala337Gly
XM_005271532.1:c.1010C>G	XP_005271589.1:p.Ala337Gly
XM_005271533.2:c.1007C>G	XP_005271590.1:p.Ala336Gly
XM_011542796.1:c.896C>G	XP_011541098.1:p.Ala299Gly
NM_000190.4:c.1061C>G MANE Select	NP_000181.2:p.Ala354Gly
NM_001024382.2:c.1010C>G	NP_001019553.1:p.Ala337Gly
XM_005271533.3:c.1007C>G	XP_005271590.1:p.Ala336Gly
XM_017017629.1:c.1010C>G	XP_016873118.1:p.Ala337Gly
XM_024448460.1:c.887C>G	XP_024304228.1:p.Ala296Gly
NM_001258208.2:c.941C>G	NP_001245137.1:p.Ala314Gly
NM_001258209.2:c.890C>G	NP_001245138.1:p.Ala297Gly