Canonical Allele Identifier: CA477129873

Gene: HMBS

Linked Data

• dbSNP Id: rs1946318380
• gnomAD v3: 11-119092952-A-G
• gnomAD v4: 11-119092952-A-G
• MyVariant Identifiers: chr11:g.118963662A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092952A>G , CM000673.2:g.119092952A>G	GRCh38
NC_000011.9:g.118963662A>G , CM000673.1:g.118963662A>G	GRCh37
NC_000011.8:g.118468872A>G	NCBI36
NG_008093.1:g.13076A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.678A>G	ENSP00000509288.1:p.Gly226=
ENST00000691144.1:n.3058A>G
ENST00000691249.1:n.1667A>G
ENST00000442944.7:c.825A>G	ENSP00000392041.3:p.Gly275=
ENST00000640813.1:c.*80A>G	ENSP00000491061.1:n.*80A>G
ENST00000648026.1:c.737A>G	ENSP00000498044.1:n.737A>G
ENST00000648374.1:c.792A>G	ENSP00000497255.1:p.Gly264=
ENST00000650101.1:c.774A>G	ENSP00000496970.1:p.Gly258=
ENST00000650307.1:n.1669A>G
ENST00000652429.1:c.843A>G MANE Select	ENSP00000498786.1:p.Gly281=
ENST00000278715.7:c.843A>G	ENSP00000278715.3:p.Gly281=
ENST00000392841.1:c.792A>G	ENSP00000376584.1:p.Gly264=
ENST00000442944.6:c.792A>G	ENSP00000392041.2:p.Gly264=
ENST00000537841.5:c.792A>G	ENSP00000444730.1:p.Gly264=
ENST00000539045.1:n.342A>G
ENST00000542044.5:n.1288A>G
ENST00000542729.5:c.672A>G	ENSP00000443058.1:p.Gly224=
ENST00000543090.5:c.750A>G	ENSP00000445429.1:p.Gly250=
ENST00000543543.5:n.1318A>G
ENST00000544182.1:n.1292A>G
ENST00000544387.5:c.723A>G	ENSP00000438424.1:p.Gly241=
ENST00000546226.5:n.1605A>G
NM_000190.3:c.843A>G	NP_000181.2:p.Gly281=
NM_001024382.1:c.792A>G	NP_001019553.1:p.Gly264=
NM_001258208.1:c.723A>G	NP_001245137.1:p.Gly241=
NM_001258209.1:c.672A>G	NP_001245138.1:p.Gly224=
XM_005271531.1:c.792A>G	XP_005271588.1:p.Gly264=
XM_005271532.1:c.792A>G	XP_005271589.1:p.Gly264=
XM_005271533.2:c.789A>G	XP_005271590.1:p.Gly263=
XM_011542796.1:c.678A>G	XP_011541098.1:p.Gly226=
NM_000190.4:c.843A>G MANE Select	NP_000181.2:p.Gly281=
NM_001024382.2:c.792A>G	NP_001019553.1:p.Gly264=
XM_005271533.3:c.789A>G	XP_005271590.1:p.Gly263=
XM_017017629.1:c.792A>G	XP_016873118.1:p.Gly264=
XM_024448460.1:c.669A>G	XP_024304228.1:p.Gly223=
NM_001258208.2:c.723A>G	NP_001245137.1:p.Gly241=
NM_001258209.2:c.672A>G	NP_001245138.1:p.Gly224=