Canonical Allele Identifier: CA477369214

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963701C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092991C>A , CM000673.2:g.119092991C>A	GRCh38
NC_000011.9:g.118963701C>A , CM000673.1:g.118963701C>A	GRCh37
NC_000011.8:g.118468911C>A	NCBI36
NG_008093.1:g.13115C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.717C>A	ENSP00000509288.1:p.Thr239=
ENST00000691144.1:n.3097C>A
ENST00000691249.1:n.1706C>A
ENST00000442944.7:c.864C>A	ENSP00000392041.3:p.Thr288=
ENST00000640813.1:c.*119C>A	ENSP00000491061.1:n.*119C>A
ENST00000648026.1:c.776C>A	ENSP00000498044.1:n.776C>A
ENST00000648374.1:c.831C>A	ENSP00000497255.1:p.Thr277=
ENST00000650101.1:c.813C>A	ENSP00000496970.1:p.Thr271=
ENST00000650307.1:n.1708C>A
ENST00000652429.1:c.882C>A MANE Select	ENSP00000498786.1:p.Thr294=
ENST00000278715.7:c.882C>A	ENSP00000278715.3:p.Thr294=
ENST00000392841.1:c.831C>A	ENSP00000376584.1:p.Thr277=
ENST00000442944.6:c.831C>A	ENSP00000392041.2:p.Thr277=
ENST00000537841.5:c.831C>A	ENSP00000444730.1:p.Thr277=
ENST00000539045.1:n.381C>A
ENST00000542044.5:n.1327C>A
ENST00000542729.5:c.711C>A	ENSP00000443058.1:p.Thr237=
ENST00000543090.5:c.789C>A	ENSP00000445429.1:p.Thr263=
ENST00000543543.5:n.1357C>A
ENST00000544182.1:n.1331C>A
ENST00000544387.5:c.762C>A	ENSP00000438424.1:p.Thr254=
ENST00000546226.5:n.1644C>A
NM_000190.3:c.882C>A	NP_000181.2:p.Thr294=
NM_001024382.1:c.831C>A	NP_001019553.1:p.Thr277=
NM_001258208.1:c.762C>A	NP_001245137.1:p.Thr254=
NM_001258209.1:c.711C>A	NP_001245138.1:p.Thr237=
XM_005271531.1:c.831C>A	XP_005271588.1:p.Thr277=
XM_005271532.1:c.831C>A	XP_005271589.1:p.Thr277=
XM_005271533.2:c.828C>A	XP_005271590.1:p.Thr276=
XM_011542796.1:c.717C>A	XP_011541098.1:p.Thr239=
NM_000190.4:c.882C>A MANE Select	NP_000181.2:p.Thr294=
NM_001024382.2:c.831C>A	NP_001019553.1:p.Thr277=
XM_005271533.3:c.828C>A	XP_005271590.1:p.Thr276=
XM_017017629.1:c.831C>A	XP_016873118.1:p.Thr277=
XM_024448460.1:c.708C>A	XP_024304228.1:p.Thr236=
NM_001258208.2:c.762C>A	NP_001245137.1:p.Thr254=
NM_001258209.2:c.711C>A	NP_001245138.1:p.Thr237=