Canonical Allele Identifier: CA2575234395

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1944643
• ClinVar RCV Id: RCV002671177
• gnomAD v4: 11-119093024-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093024A>G , CM000673.2:g.119093024A>G	GRCh38
NC_000011.9:g.118963734A>G , CM000673.1:g.118963734A>G	GRCh37
NC_000011.8:g.118468944A>G	NCBI36
NG_008093.1:g.13148A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.747+3A>G	ENSP00000509288.1:n.747+3A>G
ENST00000691144.1:n.3127+3A>G
ENST00000691249.1:n.1736+3A>G
ENST00000442944.7:c.894+3A>G	ENSP00000392041.3:n.894+3A>G
ENST00000640813.1:c.*149+3A>G	ENSP00000491061.1:n.*149+3A>G
ENST00000648026.1:c.806+3A>G	ENSP00000498044.1:n.806+3A>G
ENST00000648374.1:c.861+3A>G	ENSP00000497255.1:n.861+3A>G
ENST00000650101.1:c.843+3A>G	ENSP00000496970.1:n.843+3A>G
ENST00000650307.1:n.1738+3A>G
ENST00000652429.1:c.912+3A>G MANE Select	ENSP00000498786.1:n.912+3A>G
ENST00000278715.7:c.912+3A>G	ENSP00000278715.3:n.912+3A>G
ENST00000392841.1:c.861+3A>G	ENSP00000376584.1:n.861+3A>G
ENST00000442944.6:c.861+3A>G	ENSP00000392041.2:n.861+3A>G
ENST00000537841.5:c.861+3A>G	ENSP00000444730.1:n.861+3A>G
ENST00000539045.1:n.411+3A>G
ENST00000542044.5:n.1357+3A>G
ENST00000542729.5:c.741+3A>G	ENSP00000443058.1:n.741+3A>G
ENST00000543090.5:c.819+3A>G	ENSP00000445429.1:n.819+3A>G
ENST00000543543.5:n.1387+3A>G
ENST00000544182.1:n.1361+3A>G
ENST00000544387.5:c.792+3A>G	ENSP00000438424.1:n.792+3A>G
ENST00000546226.5:n.1674+3A>G
NM_000190.3:c.912+3A>G	NP_000181.2:n.912+3A>G
NM_001024382.1:c.861+3A>G	NP_001019553.1:n.861+3A>G
NM_001258208.1:c.792+3A>G	NP_001245137.1:n.792+3A>G
NM_001258209.1:c.741+3A>G	NP_001245138.1:n.741+3A>G
XM_005271531.1:c.861+3A>G	XP_005271588.1:n.861+3A>G
XM_005271532.1:c.861+3A>G	XP_005271589.1:n.861+3A>G
XM_005271533.2:c.858+3A>G	XP_005271590.1:n.858+3A>G
XM_011542796.1:c.747+3A>G	XP_011541098.1:n.747+3A>G
NM_000190.4:c.912+3A>G MANE Select	NP_000181.2:n.912+3A>G
NM_001024382.2:c.861+3A>G	NP_001019553.1:n.861+3A>G
XM_005271533.3:c.858+3A>G	XP_005271590.1:n.858+3A>G
XM_017017629.1:c.861+3A>G	XP_016873118.1:n.861+3A>G
XM_024448460.1:c.738+3A>G	XP_024304228.1:n.738+3A>G
NM_001258208.2:c.792+3A>G	NP_001245137.1:n.792+3A>G
NM_001258209.2:c.741+3A>G	NP_001245138.1:n.741+3A>G