Canonical Allele Identifier: CA477369326

Gene: HMBS

Linked Data

• dbSNP Id: rs1230918474
• gnomAD v2: 11-118963894-G-A
• gnomAD v3: 11-119093184-G-A
• gnomAD v4: 11-119093184-G-A
• MyVariant Identifiers: chr11:g.118963894G>A (hg19) ; chr11:g.119093184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093184G>A , CM000673.2:g.119093184G>A	GRCh38
NC_000011.9:g.118963894G>A , CM000673.1:g.118963894G>A	GRCh37
NC_000011.8:g.118469104G>A	NCBI36
NG_008093.1:g.13308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.822G>A	ENSP00000509288.1:p.Leu274=
ENST00000691144.1:n.3202G>A
ENST00000691249.1:n.1811G>A
ENST00000442944.7:c.969G>A	ENSP00000392041.3:p.Leu323=
ENST00000640813.1:c.*224G>A	ENSP00000491061.1:n.*224G>A
ENST00000648026.1:c.881G>A	ENSP00000498044.1:n.881G>A
ENST00000648374.1:c.936G>A	ENSP00000497255.1:p.Leu312=
ENST00000650101.1:c.918G>A	ENSP00000496970.1:p.Leu306=
ENST00000650307.1:n.1813G>A
ENST00000652429.1:c.987G>A MANE Select	ENSP00000498786.1:p.Leu329=
ENST00000278715.7:c.987G>A	ENSP00000278715.3:p.Leu329=
ENST00000392841.1:c.936G>A	ENSP00000376584.1:p.Leu312=
ENST00000442944.6:c.936G>A	ENSP00000392041.2:p.Leu312=
ENST00000537841.5:c.936G>A	ENSP00000444730.1:p.Leu312=
ENST00000539045.1:n.486G>A
ENST00000542044.5:n.1432G>A
ENST00000542729.5:c.816G>A	ENSP00000443058.1:p.Leu272=
ENST00000543090.5:c.894G>A	ENSP00000445429.1:p.Leu298=
ENST00000543543.5:n.1462G>A
ENST00000544182.1:n.1436G>A
ENST00000544387.5:c.867G>A	ENSP00000438424.1:p.Leu289=
ENST00000546226.5:n.1749G>A
NM_000190.3:c.987G>A	NP_000181.2:p.Leu329=
NM_001024382.1:c.936G>A	NP_001019553.1:p.Leu312=
NM_001258208.1:c.867G>A	NP_001245137.1:p.Leu289=
NM_001258209.1:c.816G>A	NP_001245138.1:p.Leu272=
XM_005271531.1:c.936G>A	XP_005271588.1:p.Leu312=
XM_005271532.1:c.936G>A	XP_005271589.1:p.Leu312=
XM_005271533.2:c.933G>A	XP_005271590.1:p.Leu311=
XM_011542796.1:c.822G>A	XP_011541098.1:p.Leu274=
NM_000190.4:c.987G>A MANE Select	NP_000181.2:p.Leu329=
NM_001024382.2:c.936G>A	NP_001019553.1:p.Leu312=
XM_005271533.3:c.933G>A	XP_005271590.1:p.Leu311=
XM_017017629.1:c.936G>A	XP_016873118.1:p.Leu312=
XM_024448460.1:c.813G>A	XP_024304228.1:p.Leu271=
NM_001258208.2:c.867G>A	NP_001245137.1:p.Leu289=
NM_001258209.2:c.816G>A	NP_001245138.1:p.Leu272=