Canonical Allele Identifier: CA382896764

Gene: HMBS

Linked Data

• ClinVar Variation Id: 851793
• ClinVar RCV Id: RCV001056264
• dbSNP Id: rs1219587773
• gnomAD v2: 11-118962858-G-A
• gnomAD v4: 11-119092148-G-A
• MyVariant Identifiers: chr11:g.118962858G>A (hg19) ; chr11:g.119092148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092148G>A , CM000673.2:g.119092148G>A	GRCh38
NC_000011.9:g.118962858G>A , CM000673.1:g.118962858G>A	GRCh37
NC_000011.8:g.118468068G>A	NCBI36
NG_008093.1:g.12272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.471G>A	ENSP00000509288.1:p.Met157Ile
ENST00000691144.1:n.2377G>A
ENST00000691249.1:n.1220G>A
ENST00000442944.7:c.618G>A	ENSP00000392041.3:p.Met206Ile
ENST00000536813.6:c.585G>A	ENSP00000438726.2:p.Met195Ile
ENST00000546302.6:c.558G>A	ENSP00000445599.1:p.Met186Ile
ENST00000640813.1:c.462-256G>A	ENSP00000491061.1:n.462-256G>A
ENST00000648026.1:c.530G>A	ENSP00000498044.1:p.Cys177Tyr
ENST00000648374.1:c.585G>A	ENSP00000497255.1:p.Met195Ile
ENST00000648488.1:c.*109G>A	ENSP00000498079.1:n.*109G>A
ENST00000649823.1:n.853G>A
ENST00000650101.1:c.567G>A	ENSP00000496970.1:p.Met189Ile
ENST00000650307.1:n.1462G>A
ENST00000652429.1:c.636G>A MANE Select	ENSP00000498786.1:p.Met212Ile
ENST00000278715.7:c.636G>A	ENSP00000278715.3:p.Met212Ile
ENST00000392841.1:c.585G>A	ENSP00000376584.1:p.Met195Ile
ENST00000442944.6:c.585G>A	ENSP00000392041.2:p.Met195Ile
ENST00000537841.5:c.585G>A	ENSP00000444730.1:p.Met195Ile
ENST00000542044.5:n.1081G>A
ENST00000542345.5:n.774G>A
ENST00000542729.5:c.585G>A	ENSP00000443058.1:p.Met195Ile
ENST00000543090.5:c.559-256G>A	ENSP00000445429.1:n.559-256G>A
ENST00000543543.5:n.871G>A
ENST00000544182.1:n.611G>A
ENST00000544387.5:c.636G>A	ENSP00000438424.1:p.Met212Ile
ENST00000545621.5:c.*531G>A	ENSP00000444849.1:n.*531G>A
ENST00000546226.5:n.924G>A
ENST00000546302.5:c.558G>A	ENSP00000445599.1:p.Met186Ile
NM_000190.3:c.636G>A	NP_000181.2:p.Met212Ile
NM_001024382.1:c.585G>A	NP_001019553.1:p.Met195Ile
NM_001258208.1:c.636G>A	NP_001245137.1:p.Met212Ile
NM_001258209.1:c.585G>A	NP_001245138.1:p.Met195Ile
XM_005271531.1:c.585G>A	XP_005271588.1:p.Met195Ile
XM_005271532.1:c.585G>A	XP_005271589.1:p.Met195Ile
XM_005271533.2:c.582G>A	XP_005271590.1:p.Met194Ile
XM_011542796.1:c.471G>A	XP_011541098.1:p.Met157Ile
NM_000190.4:c.636G>A MANE Select	NP_000181.2:p.Met212Ile
NM_001024382.2:c.585G>A	NP_001019553.1:p.Met195Ile
XM_005271533.3:c.582G>A	XP_005271590.1:p.Met194Ile
XM_017017629.1:c.585G>A	XP_016873118.1:p.Met195Ile
XM_024448460.1:c.582G>A	XP_024304228.1:p.Met194Ile
NM_001258208.2:c.636G>A	NP_001245137.1:p.Met212Ile
NM_001258209.2:c.585G>A	NP_001245138.1:p.Met195Ile