Canonical Allele Identifier: CA382899427

Gene: HMBS

Linked Data

• dbSNP Id: rs1565759130
• gnomAD v4: 11-119093167-C-G
• MyVariant Identifiers: chr11:g.118963877C>G (hg19) ; chr11:g.119093167C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093167C>G , CM000673.2:g.119093167C>G	GRCh38
NC_000011.9:g.118963877C>G , CM000673.1:g.118963877C>G	GRCh37
NC_000011.8:g.118469087C>G	NCBI36
NG_008093.1:g.13291C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.805C>G	ENSP00000509288.1:p.Pro269Ala
ENST00000691144.1:n.3185C>G
ENST00000691249.1:n.1794C>G
ENST00000442944.7:c.952C>G	ENSP00000392041.3:p.Pro318Ala
ENST00000640813.1:c.*207C>G	ENSP00000491061.1:n.*207C>G
ENST00000648026.1:c.864C>G	ENSP00000498044.1:n.864C>G
ENST00000648374.1:c.919C>G	ENSP00000497255.1:p.Pro307Ala
ENST00000650101.1:c.901C>G	ENSP00000496970.1:p.Pro301Ala
ENST00000650307.1:n.1796C>G
ENST00000652429.1:c.970C>G MANE Select	ENSP00000498786.1:p.Pro324Ala
ENST00000278715.7:c.970C>G	ENSP00000278715.3:p.Pro324Ala
ENST00000392841.1:c.919C>G	ENSP00000376584.1:p.Pro307Ala
ENST00000442944.6:c.919C>G	ENSP00000392041.2:p.Pro307Ala
ENST00000537841.5:c.919C>G	ENSP00000444730.1:p.Pro307Ala
ENST00000539045.1:n.469C>G
ENST00000542044.5:n.1415C>G
ENST00000542729.5:c.799C>G	ENSP00000443058.1:p.Pro267Ala
ENST00000543090.5:c.877C>G	ENSP00000445429.1:p.Pro293Ala
ENST00000543543.5:n.1445C>G
ENST00000544182.1:n.1419C>G
ENST00000544387.5:c.850C>G	ENSP00000438424.1:p.Pro284Ala
ENST00000546226.5:n.1732C>G
NM_000190.3:c.970C>G	NP_000181.2:p.Pro324Ala
NM_001024382.1:c.919C>G	NP_001019553.1:p.Pro307Ala
NM_001258208.1:c.850C>G	NP_001245137.1:p.Pro284Ala
NM_001258209.1:c.799C>G	NP_001245138.1:p.Pro267Ala
XM_005271531.1:c.919C>G	XP_005271588.1:p.Pro307Ala
XM_005271532.1:c.919C>G	XP_005271589.1:p.Pro307Ala
XM_005271533.2:c.916C>G	XP_005271590.1:p.Pro306Ala
XM_011542796.1:c.805C>G	XP_011541098.1:p.Pro269Ala
NM_000190.4:c.970C>G MANE Select	NP_000181.2:p.Pro324Ala
NM_001024382.2:c.919C>G	NP_001019553.1:p.Pro307Ala
XM_005271533.3:c.916C>G	XP_005271590.1:p.Pro306Ala
XM_017017629.1:c.919C>G	XP_016873118.1:p.Pro307Ala
XM_024448460.1:c.796C>G	XP_024304228.1:p.Pro266Ala
NM_001258208.2:c.850C>G	NP_001245137.1:p.Pro284Ala
NM_001258209.2:c.799C>G	NP_001245138.1:p.Pro267Ala