Canonical Allele Identifier: CA115020
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1484
ClinVar RCV Id: RCV000001549 RCV001851553
dbSNP Id: rs118204118
MyVariant Identifiers: chr11:g.118955744A>G (hg19) chr11:g.119085034A>G (hg38)
PubMed: PMID:7962538
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119085034A>G , CM000673.2:g.119085034A>G GRCh38
NC_000011.9:g.118955744A>G , CM000673.1:g.118955744A>G GRCh37
NC_000011.8:g.118460954A>G NCBI36
NG_008093.1:g.5158A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442944.7:c.1A>G ENSP00000392041.3:p.Met1Val
ENST00000534956.2:n.4A>G
ENST00000536813.6:c.-134A>G ENSP00000438726.2:n.-134A>G
ENST00000546302.6:c.1A>G ENSP00000445599.1:p.Met1Val
ENST00000640813.1:c.-51A>G ENSP00000491061.1:n.-51A>G
ENST00000649868.1:c.1A>G ENSP00000497548.1:p.Met1Val
ENST00000652429.1:c.1A>G MANE Select ENSP00000498786.1:p.Met1Val
ENST00000278715.7:c.1A>G ENSP00000278715.3:p.Met1Val
ENST00000442944.6:c.-134A>G ENSP00000392041.2:n.-134A>G
ENST00000535793.5:c.1A>G ENSP00000439904.1:p.Met1Val
ENST00000536185.5:n.169A>G
ENST00000536813.5:c.1A>G ENSP00000438726.1:p.Met1Val
ENST00000537841.5:c.-142A>G ENSP00000444730.1:n.-142A>G
ENST00000542044.5:n.126A>G
ENST00000542729.5:c.-142A>G ENSP00000443058.1:n.-142A>G
ENST00000542822.5:c.1A>G ENSP00000444817.1:p.Met1Val
ENST00000543090.5:c.1A>G ENSP00000445429.1:p.Met1Val
ENST00000543821.5:n.147A>G
ENST00000544387.5:c.1A>G ENSP00000438424.1:p.Met1Val
ENST00000545621.5:c.1A>G ENSP00000444849.1:p.Met1Val
ENST00000545901.5:n.154A>G
ENST00000546302.5:c.1A>G ENSP00000445599.1:p.Met1Val
NM_000190.3:c.1A>G NP_000181.2:p.Met1Val
NM_001258208.1:c.1A>G NP_001245137.1:p.Met1Val
NM_001258209.1:c.-142A>G NP_001245138.1:n.-142A>G
XM_005271531.1:c.-142A>G XP_005271588.1:n.-142A>G
XM_005271532.1:c.-118A>G XP_005271589.1:n.-118A>G
XM_005271533.2:c.1A>G XP_005271590.1:p.Met1Val
NM_000190.4:c.1A>G MANE Select NP_000181.2:p.Met1Val
XM_005271533.3:c.1A>G XP_005271590.1:p.Met1Val
XM_024448460.1:c.1A>G XP_024304228.1:p.Met1Val
NM_001258208.2:c.1A>G NP_001245137.1:p.Met1Val
NM_001258209.2:c.-142A>G NP_001245138.1:n.-142A>G
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