Canonical Allele Identifier: CA2616355685

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093398-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093398C>G , CM000673.2:g.119093398C>G	GRCh38
NC_000011.9:g.118964108C>G , CM000673.1:g.118964108C>G	GRCh37
NC_000011.8:g.118469318C>G	NCBI36
NG_008093.1:g.13522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*115C>G	ENSP00000509288.1:n.*115C>G
ENST00000691144.1:n.3416C>G
ENST00000691249.1:n.2025C>G
ENST00000442944.7:c.*115C>G	ENSP00000392041.3:n.*115C>G
ENST00000640813.1:c.*438C>G	ENSP00000491061.1:n.*438C>G
ENST00000648026.1:c.1095C>G	ENSP00000498044.1:n.1095C>G
ENST00000648374.1:c.*115C>G	ENSP00000497255.1:n.*115C>G
ENST00000650101.1:c.*115C>G	ENSP00000496970.1:n.*115C>G
ENST00000650307.1:n.2027C>G
ENST00000652429.1:c.*115C>G MANE Select	ENSP00000498786.1:n.*115C>G
ENST00000278715.7:c.*115C>G	ENSP00000278715.3:n.*115C>G
ENST00000392841.1:c.*115C>G	ENSP00000376584.1:n.*115C>G
ENST00000442944.6:c.*115C>G	ENSP00000392041.2:n.*115C>G
ENST00000537841.5:c.*115C>G	ENSP00000444730.1:n.*115C>G
ENST00000539045.1:n.700C>G
ENST00000542729.5:c.*115C>G	ENSP00000443058.1:n.*115C>G
ENST00000543090.5:c.*115C>G	ENSP00000445429.1:n.*115C>G
ENST00000543543.5:n.1676C>G
ENST00000544387.5:c.*115C>G	ENSP00000438424.1:n.*115C>G
ENST00000546226.5:n.1963C>G
NM_000190.3:c.*115C>G	NP_000181.2:n.*115C>G
NM_001024382.1:c.*115C>G	NP_001019553.1:n.*115C>G
NM_001258208.1:c.*115C>G	NP_001245137.1:n.*115C>G
NM_001258209.1:c.*115C>G	NP_001245138.1:n.*115C>G
XM_005271531.1:c.*115C>G	XP_005271588.1:n.*115C>G
XM_005271532.1:c.*115C>G	XP_005271589.1:n.*115C>G
XM_005271533.2:c.*115C>G	XP_005271590.1:n.*115C>G
XM_011542796.1:c.*115C>G	XP_011541098.1:n.*115C>G
NM_000190.4:c.*115C>G MANE Select	NP_000181.2:n.*115C>G
NM_001024382.2:c.*115C>G	NP_001019553.1:n.*115C>G
XM_005271533.3:c.*115C>G	XP_005271590.1:n.*115C>G
XM_017017629.1:c.*115C>G	XP_016873118.1:n.*115C>G
XM_024448460.1:c.*115C>G	XP_024304228.1:n.*115C>G
NM_001258208.2:c.*115C>G	NP_001245137.1:n.*115C>G
NM_001258209.2:c.*115C>G	NP_001245138.1:n.*115C>G