Canonical Allele Identifier: CA229597396

Gene: HMBS

Linked Data

• dbSNP Id: rs567922091
• gnomAD v3: 11-119093213-C-G
• gnomAD v4: 11-119093213-C-G
• MyVariant Identifiers: chr11:g.118963923C>G (hg19) ; chr11:g.119093213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093213C>G , CM000673.2:g.119093213C>G	GRCh38
NC_000011.9:g.118963923C>G , CM000673.1:g.118963923C>G	GRCh37
NC_000011.8:g.118469133C>G	NCBI36
NG_008093.1:g.13337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.851C>G	ENSP00000509288.1:p.Ala284Gly
ENST00000691144.1:n.3231C>G
ENST00000691249.1:n.1840C>G
ENST00000442944.7:c.998C>G	ENSP00000392041.3:p.Ala333Gly
ENST00000640813.1:c.*253C>G	ENSP00000491061.1:n.*253C>G
ENST00000648026.1:c.910C>G	ENSP00000498044.1:n.910C>G
ENST00000648374.1:c.965C>G	ENSP00000497255.1:p.Ala322Gly
ENST00000650101.1:c.947C>G	ENSP00000496970.1:p.Ala316Gly
ENST00000650307.1:n.1842C>G
ENST00000652429.1:c.1016C>G MANE Select	ENSP00000498786.1:p.Ala339Gly
ENST00000278715.7:c.1016C>G	ENSP00000278715.3:p.Ala339Gly
ENST00000392841.1:c.965C>G	ENSP00000376584.1:p.Ala322Gly
ENST00000442944.6:c.965C>G	ENSP00000392041.2:p.Ala322Gly
ENST00000537841.5:c.965C>G	ENSP00000444730.1:p.Ala322Gly
ENST00000539045.1:n.515C>G
ENST00000542044.5:n.1461C>G
ENST00000542729.5:c.845C>G	ENSP00000443058.1:p.Ala282Gly
ENST00000543090.5:c.923C>G	ENSP00000445429.1:p.Ala308Gly
ENST00000543543.5:n.1491C>G
ENST00000544182.1:n.1465C>G
ENST00000544387.5:c.896C>G	ENSP00000438424.1:p.Ala299Gly
ENST00000546226.5:n.1778C>G
NM_000190.3:c.1016C>G	NP_000181.2:p.Ala339Gly
NM_001024382.1:c.965C>G	NP_001019553.1:p.Ala322Gly
NM_001258208.1:c.896C>G	NP_001245137.1:p.Ala299Gly
NM_001258209.1:c.845C>G	NP_001245138.1:p.Ala282Gly
XM_005271531.1:c.965C>G	XP_005271588.1:p.Ala322Gly
XM_005271532.1:c.965C>G	XP_005271589.1:p.Ala322Gly
XM_005271533.2:c.962C>G	XP_005271590.1:p.Ala321Gly
XM_011542796.1:c.851C>G	XP_011541098.1:p.Ala284Gly
NM_000190.4:c.1016C>G MANE Select	NP_000181.2:p.Ala339Gly
NM_001024382.2:c.965C>G	NP_001019553.1:p.Ala322Gly
XM_005271533.3:c.962C>G	XP_005271590.1:p.Ala321Gly
XM_017017629.1:c.965C>G	XP_016873118.1:p.Ala322Gly
XM_024448460.1:c.842C>G	XP_024304228.1:p.Ala281Gly
NM_001258208.2:c.896C>G	NP_001245137.1:p.Ala299Gly
NM_001258209.2:c.845C>G	NP_001245138.1:p.Ala282Gly