Canonical Allele Identifier: CA229596859

Gene: HMBS

Linked Data

• dbSNP Id: rs549240336
• gnomAD v2: 11-118963536-A-G
• gnomAD v4: 11-119092826-A-G
• MyVariant Identifiers: chr11:g.118963536A>G (hg19) ; chr11:g.119092826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092826A>G , CM000673.2:g.119092826A>G	GRCh38
NC_000011.9:g.118963536A>G , CM000673.1:g.118963536A>G	GRCh37
NC_000011.8:g.118468746A>G	NCBI36
NG_008093.1:g.12950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.660+15A>G	ENSP00000509288.1:n.660+15A>G
ENST00000691144.1:n.3040+15A>G
ENST00000691249.1:n.1649+15A>G
ENST00000442944.7:c.807+15A>G	ENSP00000392041.3:n.807+15A>G
ENST00000640813.1:c.*62+15A>G	ENSP00000491061.1:n.*62+15A>G
ENST00000648026.1:c.719+15A>G	ENSP00000498044.1:n.719+15A>G
ENST00000648374.1:c.774+15A>G	ENSP00000497255.1:n.774+15A>G
ENST00000649823.1:n.1282+15A>G
ENST00000650101.1:c.756+15A>G	ENSP00000496970.1:n.756+15A>G
ENST00000650307.1:n.1651+15A>G
ENST00000652429.1:c.825+15A>G MANE Select	ENSP00000498786.1:n.825+15A>G
ENST00000278715.7:c.825+15A>G	ENSP00000278715.3:n.825+15A>G
ENST00000392841.1:c.774+15A>G	ENSP00000376584.1:n.774+15A>G
ENST00000442944.6:c.774+15A>G	ENSP00000392041.2:n.774+15A>G
ENST00000537841.5:c.774+15A>G	ENSP00000444730.1:n.774+15A>G
ENST00000539045.1:n.216A>G
ENST00000542044.5:n.1270+15A>G
ENST00000542729.5:c.654+15A>G	ENSP00000443058.1:n.654+15A>G
ENST00000543090.5:c.732+15A>G	ENSP00000445429.1:n.732+15A>G
ENST00000543543.5:n.1300+15A>G
ENST00000544182.1:n.1274+15A>G
ENST00000544387.5:c.705+15A>G	ENSP00000438424.1:n.705+15A>G
ENST00000546226.5:n.1587+15A>G
NM_000190.3:c.825+15A>G	NP_000181.2:n.825+15A>G
NM_001024382.1:c.774+15A>G	NP_001019553.1:n.774+15A>G
NM_001258208.1:c.705+15A>G	NP_001245137.1:n.705+15A>G
NM_001258209.1:c.654+15A>G	NP_001245138.1:n.654+15A>G
XM_005271531.1:c.774+15A>G	XP_005271588.1:n.774+15A>G
XM_005271532.1:c.774+15A>G	XP_005271589.1:n.774+15A>G
XM_005271533.2:c.771+15A>G	XP_005271590.1:n.771+15A>G
XM_011542796.1:c.660+15A>G	XP_011541098.1:n.660+15A>G
NM_000190.4:c.825+15A>G MANE Select	NP_000181.2:n.825+15A>G
NM_001024382.2:c.774+15A>G	NP_001019553.1:n.774+15A>G
XM_005271533.3:c.771+15A>G	XP_005271590.1:n.771+15A>G
XM_017017629.1:c.774+15A>G	XP_016873118.1:n.774+15A>G
XM_024448460.1:c.651+15A>G	XP_024304228.1:n.651+15A>G
NM_001258208.2:c.705+15A>G	NP_001245137.1:n.705+15A>G
NM_001258209.2:c.654+15A>G	NP_001245138.1:n.654+15A>G