Canonical Allele Identifier: CA6314300

Gene: HMBS

Linked Data

• dbSNP Id: rs763067158
• ExAC: 11:118963930 G / A
• gnomAD v2: 11-118963930-G-A
• gnomAD v4: 11-119093220-G-A
• MyVariant Identifiers: chr11:g.118963930G>A (hg19) ; chr11:g.119093220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093220G>A , CM000673.2:g.119093220G>A	GRCh38
NC_000011.9:g.118963930G>A , CM000673.1:g.118963930G>A	GRCh37
NC_000011.8:g.118469140G>A	NCBI36
NG_008093.1:g.13344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.858G>A	ENSP00000509288.1:p.Leu286=
ENST00000691144.1:n.3238G>A
ENST00000691249.1:n.1847G>A
ENST00000442944.7:c.1005G>A	ENSP00000392041.3:p.Leu335=
ENST00000640813.1:c.*260G>A	ENSP00000491061.1:n.*260G>A
ENST00000648026.1:c.917G>A	ENSP00000498044.1:n.917G>A
ENST00000648374.1:c.972G>A	ENSP00000497255.1:p.Leu324=
ENST00000650101.1:c.954G>A	ENSP00000496970.1:p.Leu318=
ENST00000650307.1:n.1849G>A
ENST00000652429.1:c.1023G>A MANE Select	ENSP00000498786.1:p.Leu341=
ENST00000278715.7:c.1023G>A	ENSP00000278715.3:p.Leu341=
ENST00000392841.1:c.972G>A	ENSP00000376584.1:p.Leu324=
ENST00000442944.6:c.972G>A	ENSP00000392041.2:p.Leu324=
ENST00000537841.5:c.972G>A	ENSP00000444730.1:p.Leu324=
ENST00000539045.1:n.522G>A
ENST00000542044.5:n.1468G>A
ENST00000542729.5:c.852G>A	ENSP00000443058.1:p.Leu284=
ENST00000543090.5:c.930G>A	ENSP00000445429.1:p.Leu310=
ENST00000543543.5:n.1498G>A
ENST00000544182.1:n.1472G>A
ENST00000544387.5:c.903G>A	ENSP00000438424.1:p.Leu301=
ENST00000546226.5:n.1785G>A
NM_000190.3:c.1023G>A	NP_000181.2:p.Leu341=
NM_001024382.1:c.972G>A	NP_001019553.1:p.Leu324=
NM_001258208.1:c.903G>A	NP_001245137.1:p.Leu301=
NM_001258209.1:c.852G>A	NP_001245138.1:p.Leu284=
XM_005271531.1:c.972G>A	XP_005271588.1:p.Leu324=
XM_005271532.1:c.972G>A	XP_005271589.1:p.Leu324=
XM_005271533.2:c.969G>A	XP_005271590.1:p.Leu323=
XM_011542796.1:c.858G>A	XP_011541098.1:p.Leu286=
NM_000190.4:c.1023G>A MANE Select	NP_000181.2:p.Leu341=
NM_001024382.2:c.972G>A	NP_001019553.1:p.Leu324=
XM_005271533.3:c.969G>A	XP_005271590.1:p.Leu323=
XM_017017629.1:c.972G>A	XP_016873118.1:p.Leu324=
XM_024448460.1:c.849G>A	XP_024304228.1:p.Leu283=
NM_001258208.2:c.903G>A	NP_001245137.1:p.Leu301=
NM_001258209.2:c.852G>A	NP_001245138.1:p.Leu284=