Canonical Allele Identifier: CA477369306

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093169-A-G
• MyVariant Identifiers: chr11:g.118963879A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093169A>G , CM000673.2:g.119093169A>G	GRCh38
NC_000011.9:g.118963879A>G , CM000673.1:g.118963879A>G	GRCh37
NC_000011.8:g.118469089A>G	NCBI36
NG_008093.1:g.13293A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.807A>G	ENSP00000509288.1:p.Pro269=
ENST00000691144.1:n.3187A>G
ENST00000691249.1:n.1796A>G
ENST00000442944.7:c.954A>G	ENSP00000392041.3:p.Pro318=
ENST00000640813.1:c.*209A>G	ENSP00000491061.1:n.*209A>G
ENST00000648026.1:c.866A>G	ENSP00000498044.1:n.866A>G
ENST00000648374.1:c.921A>G	ENSP00000497255.1:p.Pro307=
ENST00000650101.1:c.903A>G	ENSP00000496970.1:p.Pro301=
ENST00000650307.1:n.1798A>G
ENST00000652429.1:c.972A>G MANE Select	ENSP00000498786.1:p.Pro324=
ENST00000278715.7:c.972A>G	ENSP00000278715.3:p.Pro324=
ENST00000392841.1:c.921A>G	ENSP00000376584.1:p.Pro307=
ENST00000442944.6:c.921A>G	ENSP00000392041.2:p.Pro307=
ENST00000537841.5:c.921A>G	ENSP00000444730.1:p.Pro307=
ENST00000539045.1:n.471A>G
ENST00000542044.5:n.1417A>G
ENST00000542729.5:c.801A>G	ENSP00000443058.1:p.Pro267=
ENST00000543090.5:c.879A>G	ENSP00000445429.1:p.Pro293=
ENST00000543543.5:n.1447A>G
ENST00000544182.1:n.1421A>G
ENST00000544387.5:c.852A>G	ENSP00000438424.1:p.Pro284=
ENST00000546226.5:n.1734A>G
NM_000190.3:c.972A>G	NP_000181.2:p.Pro324=
NM_001024382.1:c.921A>G	NP_001019553.1:p.Pro307=
NM_001258208.1:c.852A>G	NP_001245137.1:p.Pro284=
NM_001258209.1:c.801A>G	NP_001245138.1:p.Pro267=
XM_005271531.1:c.921A>G	XP_005271588.1:p.Pro307=
XM_005271532.1:c.921A>G	XP_005271589.1:p.Pro307=
XM_005271533.2:c.918A>G	XP_005271590.1:p.Pro306=
XM_011542796.1:c.807A>G	XP_011541098.1:p.Pro269=
NM_000190.4:c.972A>G MANE Select	NP_000181.2:p.Pro324=
NM_001024382.2:c.921A>G	NP_001019553.1:p.Pro307=
XM_005271533.3:c.918A>G	XP_005271590.1:p.Pro306=
XM_017017629.1:c.921A>G	XP_016873118.1:p.Pro307=
XM_024448460.1:c.798A>G	XP_024304228.1:p.Pro266=
NM_001258208.2:c.852A>G	NP_001245137.1:p.Pro284=
NM_001258209.2:c.801A>G	NP_001245138.1:p.Pro267=