Canonical Allele Identifier: CA382899865

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963937A>G (hg19) ; chr11:g.119093227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093227A>G , CM000673.2:g.119093227A>G	GRCh38
NC_000011.9:g.118963937A>G , CM000673.1:g.118963937A>G	GRCh37
NC_000011.8:g.118469147A>G	NCBI36
NG_008093.1:g.13351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.865A>G	ENSP00000509288.1:p.Ser289Gly
ENST00000691144.1:n.3245A>G
ENST00000691249.1:n.1854A>G
ENST00000442944.7:c.1012A>G	ENSP00000392041.3:p.Ser338Gly
ENST00000640813.1:c.*267A>G	ENSP00000491061.1:n.*267A>G
ENST00000648026.1:c.924A>G	ENSP00000498044.1:n.924A>G
ENST00000648374.1:c.979A>G	ENSP00000497255.1:p.Ser327Gly
ENST00000650101.1:c.961A>G	ENSP00000496970.1:p.Ser321Gly
ENST00000650307.1:n.1856A>G
ENST00000652429.1:c.1030A>G MANE Select	ENSP00000498786.1:p.Ser344Gly
ENST00000278715.7:c.1030A>G	ENSP00000278715.3:p.Ser344Gly
ENST00000392841.1:c.979A>G	ENSP00000376584.1:p.Ser327Gly
ENST00000442944.6:c.979A>G	ENSP00000392041.2:p.Ser327Gly
ENST00000537841.5:c.979A>G	ENSP00000444730.1:p.Ser327Gly
ENST00000539045.1:n.529A>G
ENST00000542044.5:n.1475A>G
ENST00000542729.5:c.859A>G	ENSP00000443058.1:p.Ser287Gly
ENST00000543090.5:c.937A>G	ENSP00000445429.1:p.Ser313Gly
ENST00000543543.5:n.1505A>G
ENST00000544182.1:n.1479A>G
ENST00000544387.5:c.910A>G	ENSP00000438424.1:p.Ser304Gly
ENST00000546226.5:n.1792A>G
NM_000190.3:c.1030A>G	NP_000181.2:p.Ser344Gly
NM_001024382.1:c.979A>G	NP_001019553.1:p.Ser327Gly
NM_001258208.1:c.910A>G	NP_001245137.1:p.Ser304Gly
NM_001258209.1:c.859A>G	NP_001245138.1:p.Ser287Gly
XM_005271531.1:c.979A>G	XP_005271588.1:p.Ser327Gly
XM_005271532.1:c.979A>G	XP_005271589.1:p.Ser327Gly
XM_005271533.2:c.976A>G	XP_005271590.1:p.Ser326Gly
XM_011542796.1:c.865A>G	XP_011541098.1:p.Ser289Gly
NM_000190.4:c.1030A>G MANE Select	NP_000181.2:p.Ser344Gly
NM_001024382.2:c.979A>G	NP_001019553.1:p.Ser327Gly
XM_005271533.3:c.976A>G	XP_005271590.1:p.Ser326Gly
XM_017017629.1:c.979A>G	XP_016873118.1:p.Ser327Gly
XM_024448460.1:c.856A>G	XP_024304228.1:p.Ser286Gly
NM_001258208.2:c.910A>G	NP_001245137.1:p.Ser304Gly
NM_001258209.2:c.859A>G	NP_001245138.1:p.Ser287Gly