Canonical Allele Identifier: CA382898471

Gene: HMBS

Linked Data

• dbSNP Id: rs1452297789
• gnomAD v2: 11-118963513-G-A
• gnomAD v4: 11-119092803-G-A
• MyVariant Identifiers: chr11:g.118963513G>A (hg19) ; chr11:g.119092803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092803G>A , CM000673.2:g.119092803G>A	GRCh38
NC_000011.9:g.118963513G>A , CM000673.1:g.118963513G>A	GRCh37
NC_000011.8:g.118468723G>A	NCBI36
NG_008093.1:g.12927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.652G>A	ENSP00000509288.1:p.Asp218Asn
ENST00000691144.1:n.3032G>A
ENST00000691249.1:n.1641G>A
ENST00000442944.7:c.799G>A	ENSP00000392041.3:p.Asp267Asn
ENST00000640813.1:c.*54G>A	ENSP00000491061.1:n.*54G>A
ENST00000648026.1:c.711G>A	ENSP00000498044.1:n.711G>A
ENST00000648374.1:c.766G>A	ENSP00000497255.1:p.Asp256Asn
ENST00000649823.1:n.1274G>A
ENST00000650101.1:c.748G>A	ENSP00000496970.1:p.Asp250Asn
ENST00000650307.1:n.1643G>A
ENST00000652429.1:c.817G>A MANE Select	ENSP00000498786.1:p.Asp273Asn
ENST00000278715.7:c.817G>A	ENSP00000278715.3:p.Asp273Asn
ENST00000392841.1:c.766G>A	ENSP00000376584.1:p.Asp256Asn
ENST00000442944.6:c.766G>A	ENSP00000392041.2:p.Asp256Asn
ENST00000537841.5:c.766G>A	ENSP00000444730.1:p.Asp256Asn
ENST00000539045.1:n.193G>A
ENST00000542044.5:n.1262G>A
ENST00000542729.5:c.646G>A	ENSP00000443058.1:p.Asp216Asn
ENST00000543090.5:c.724G>A	ENSP00000445429.1:p.Asp242Asn
ENST00000543543.5:n.1292G>A
ENST00000544182.1:n.1266G>A
ENST00000544387.5:c.697G>A	ENSP00000438424.1:p.Asp233Asn
ENST00000546226.5:n.1579G>A
NM_000190.3:c.817G>A	NP_000181.2:p.Asp273Asn
NM_001024382.1:c.766G>A	NP_001019553.1:p.Asp256Asn
NM_001258208.1:c.697G>A	NP_001245137.1:p.Asp233Asn
NM_001258209.1:c.646G>A	NP_001245138.1:p.Asp216Asn
XM_005271531.1:c.766G>A	XP_005271588.1:p.Asp256Asn
XM_005271532.1:c.766G>A	XP_005271589.1:p.Asp256Asn
XM_005271533.2:c.763G>A	XP_005271590.1:p.Asp255Asn
XM_011542796.1:c.652G>A	XP_011541098.1:p.Asp218Asn
NM_000190.4:c.817G>A MANE Select	NP_000181.2:p.Asp273Asn
NM_001024382.2:c.766G>A	NP_001019553.1:p.Asp256Asn
XM_005271533.3:c.763G>A	XP_005271590.1:p.Asp255Asn
XM_017017629.1:c.766G>A	XP_016873118.1:p.Asp256Asn
XM_024448460.1:c.643G>A	XP_024304228.1:p.Asp215Asn
NM_001258208.2:c.697G>A	NP_001245137.1:p.Asp233Asn
NM_001258209.2:c.646G>A	NP_001245138.1:p.Asp216Asn