Canonical Allele Identifier: CA477129908

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092955-C-G
• MyVariant Identifiers: chr11:g.118963665C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092955C>G , CM000673.2:g.119092955C>G	GRCh38
NC_000011.9:g.118963665C>G , CM000673.1:g.118963665C>G	GRCh37
NC_000011.8:g.118468875C>G	NCBI36
NG_008093.1:g.13079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.681C>G	ENSP00000509288.1:p.Val227=
ENST00000691144.1:n.3061C>G
ENST00000691249.1:n.1670C>G
ENST00000442944.7:c.828C>G	ENSP00000392041.3:p.Val276=
ENST00000640813.1:c.*83C>G	ENSP00000491061.1:n.*83C>G
ENST00000648026.1:c.740C>G	ENSP00000498044.1:n.740C>G
ENST00000648374.1:c.795C>G	ENSP00000497255.1:p.Val265=
ENST00000650101.1:c.777C>G	ENSP00000496970.1:p.Val259=
ENST00000650307.1:n.1672C>G
ENST00000652429.1:c.846C>G MANE Select	ENSP00000498786.1:p.Val282=
ENST00000278715.7:c.846C>G	ENSP00000278715.3:p.Val282=
ENST00000392841.1:c.795C>G	ENSP00000376584.1:p.Val265=
ENST00000442944.6:c.795C>G	ENSP00000392041.2:p.Val265=
ENST00000537841.5:c.795C>G	ENSP00000444730.1:p.Val265=
ENST00000539045.1:n.345C>G
ENST00000542044.5:n.1291C>G
ENST00000542729.5:c.675C>G	ENSP00000443058.1:p.Val225=
ENST00000543090.5:c.753C>G	ENSP00000445429.1:p.Val251=
ENST00000543543.5:n.1321C>G
ENST00000544182.1:n.1295C>G
ENST00000544387.5:c.726C>G	ENSP00000438424.1:p.Val242=
ENST00000546226.5:n.1608C>G
NM_000190.3:c.846C>G	NP_000181.2:p.Val282=
NM_001024382.1:c.795C>G	NP_001019553.1:p.Val265=
NM_001258208.1:c.726C>G	NP_001245137.1:p.Val242=
NM_001258209.1:c.675C>G	NP_001245138.1:p.Val225=
XM_005271531.1:c.795C>G	XP_005271588.1:p.Val265=
XM_005271532.1:c.795C>G	XP_005271589.1:p.Val265=
XM_005271533.2:c.792C>G	XP_005271590.1:p.Val264=
XM_011542796.1:c.681C>G	XP_011541098.1:p.Val227=
NM_000190.4:c.846C>G MANE Select	NP_000181.2:p.Val282=
NM_001024382.2:c.795C>G	NP_001019553.1:p.Val265=
XM_005271533.3:c.792C>G	XP_005271590.1:p.Val264=
XM_017017629.1:c.795C>G	XP_016873118.1:p.Val265=
XM_024448460.1:c.672C>G	XP_024304228.1:p.Val224=
NM_001258208.2:c.726C>G	NP_001245137.1:p.Val242=
NM_001258209.2:c.675C>G	NP_001245138.1:p.Val225=