Canonical Allele Identifier: CA382899247

Gene: HMBS

Linked Data

• dbSNP Id: rs1278115874
• gnomAD v2: 11-118963856-G-A
• gnomAD v4: 11-119093146-G-A
• COSMIC: COSM4018460
• MyVariant Identifiers: chr11:g.118963856G>A (hg19) ; chr11:g.119093146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093146G>A , CM000673.2:g.119093146G>A	GRCh38
NC_000011.9:g.118963856G>A , CM000673.1:g.118963856G>A	GRCh37
NC_000011.8:g.118469066G>A	NCBI36
NG_008093.1:g.13270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.784G>A	ENSP00000509288.1:p.Gly262Ser
ENST00000691144.1:n.3164G>A
ENST00000691249.1:n.1773G>A
ENST00000442944.7:c.931G>A	ENSP00000392041.3:p.Gly311Ser
ENST00000640813.1:c.*186G>A	ENSP00000491061.1:n.*186G>A
ENST00000648026.1:c.843G>A	ENSP00000498044.1:n.843G>A
ENST00000648374.1:c.898G>A	ENSP00000497255.1:p.Gly300Ser
ENST00000650101.1:c.880G>A	ENSP00000496970.1:p.Gly294Ser
ENST00000650307.1:n.1775G>A
ENST00000652429.1:c.949G>A MANE Select	ENSP00000498786.1:p.Gly317Ser
ENST00000278715.7:c.949G>A	ENSP00000278715.3:p.Gly317Ser
ENST00000392841.1:c.898G>A	ENSP00000376584.1:p.Gly300Ser
ENST00000442944.6:c.898G>A	ENSP00000392041.2:p.Gly300Ser
ENST00000537841.5:c.898G>A	ENSP00000444730.1:p.Gly300Ser
ENST00000539045.1:n.448G>A
ENST00000542044.5:n.1394G>A
ENST00000542729.5:c.778G>A	ENSP00000443058.1:p.Gly260Ser
ENST00000543090.5:c.856G>A	ENSP00000445429.1:p.Gly286Ser
ENST00000543543.5:n.1424G>A
ENST00000544182.1:n.1398G>A
ENST00000544387.5:c.829G>A	ENSP00000438424.1:p.Gly277Ser
ENST00000546226.5:n.1711G>A
NM_000190.3:c.949G>A	NP_000181.2:p.Gly317Ser
NM_001024382.1:c.898G>A	NP_001019553.1:p.Gly300Ser
NM_001258208.1:c.829G>A	NP_001245137.1:p.Gly277Ser
NM_001258209.1:c.778G>A	NP_001245138.1:p.Gly260Ser
XM_005271531.1:c.898G>A	XP_005271588.1:p.Gly300Ser
XM_005271532.1:c.898G>A	XP_005271589.1:p.Gly300Ser
XM_005271533.2:c.895G>A	XP_005271590.1:p.Gly299Ser
XM_011542796.1:c.784G>A	XP_011541098.1:p.Gly262Ser
NM_000190.4:c.949G>A MANE Select	NP_000181.2:p.Gly317Ser
NM_001024382.2:c.898G>A	NP_001019553.1:p.Gly300Ser
XM_005271533.3:c.895G>A	XP_005271590.1:p.Gly299Ser
XM_017017629.1:c.898G>A	XP_016873118.1:p.Gly300Ser
XM_024448460.1:c.775G>A	XP_024304228.1:p.Gly259Ser
NM_001258208.2:c.829G>A	NP_001245137.1:p.Gly277Ser
NM_001258209.2:c.778G>A	NP_001245138.1:p.Gly260Ser