Canonical Allele Identifier: CA229595700

Gene: HMBS

Linked Data

• dbSNP Id: rs758606972
• gnomAD v4: 11-119091838-C-G
• MyVariant Identifiers: chr11:g.118962548C>G (hg19) ; chr11:g.119091838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091838C>G , CM000673.2:g.119091838C>G	GRCh38
NC_000011.9:g.118962548C>G , CM000673.1:g.118962548C>G	GRCh37
NC_000011.8:g.118467758C>G	NCBI36
NG_008093.1:g.11962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-287C>G	ENSP00000509288.1:n.448-287C>G
ENST00000686690.1:n.1774C>G
ENST00000691144.1:n.2354-287C>G
ENST00000691249.1:n.1197-287C>G
ENST00000442944.7:c.595-287C>G	ENSP00000392041.3:n.595-287C>G
ENST00000534956.2:n.448-23C>G
ENST00000536813.6:c.562-287C>G	ENSP00000438726.2:n.562-287C>G
ENST00000546302.6:c.535-287C>G	ENSP00000445599.1:n.535-287C>G
ENST00000640813.1:c.448-23C>G	ENSP00000491061.1:n.448-23C>G
ENST00000648026.1:c.493-23C>G	ENSP00000498044.1:n.493-23C>G
ENST00000648374.1:c.562-287C>G	ENSP00000497255.1:n.562-287C>G
ENST00000648488.1:c.*86-287C>G	ENSP00000498079.1:n.*86-287C>G
ENST00000649823.1:n.830-287C>G
ENST00000649868.1:c.*207-23C>G	ENSP00000497548.1:n.*207-23C>G
ENST00000650101.1:c.544-287C>G	ENSP00000496970.1:n.544-287C>G
ENST00000650307.1:n.1439-287C>G
ENST00000652429.1:c.613-287C>G MANE Select	ENSP00000498786.1:n.613-287C>G
ENST00000278715.7:c.613-287C>G	ENSP00000278715.3:n.613-287C>G
ENST00000392841.1:c.562-287C>G	ENSP00000376584.1:n.562-287C>G
ENST00000442944.6:c.562-287C>G	ENSP00000392041.2:n.562-287C>G
ENST00000534956.1:n.415-23C>G
ENST00000537841.5:c.562-287C>G	ENSP00000444730.1:n.562-287C>G
ENST00000542044.5:n.1058-287C>G
ENST00000542345.5:n.751-287C>G
ENST00000542729.5:c.562-287C>G	ENSP00000443058.1:n.562-287C>G
ENST00000543090.5:c.558+312C>G	ENSP00000445429.1:n.558+312C>G
ENST00000543543.5:n.848-287C>G
ENST00000544182.1:n.301C>G
ENST00000544387.5:c.613-287C>G	ENSP00000438424.1:n.613-287C>G
ENST00000545621.5:c.*508-287C>G	ENSP00000444849.1:n.*508-287C>G
ENST00000546226.5:n.901-287C>G
ENST00000546302.5:c.535-287C>G	ENSP00000445599.1:n.535-287C>G
NM_000190.3:c.613-287C>G	NP_000181.2:n.613-287C>G
NM_001024382.1:c.562-287C>G	NP_001019553.1:n.562-287C>G
NM_001258208.1:c.613-287C>G	NP_001245137.1:n.613-287C>G
NM_001258209.1:c.562-287C>G	NP_001245138.1:n.562-287C>G
XM_005271531.1:c.562-287C>G	XP_005271588.1:n.562-287C>G
XM_005271532.1:c.562-287C>G	XP_005271589.1:n.562-287C>G
XM_005271533.2:c.559-287C>G	XP_005271590.1:n.559-287C>G
XM_011542796.1:c.448-287C>G	XP_011541098.1:n.448-287C>G
NM_000190.4:c.613-287C>G MANE Select	NP_000181.2:n.613-287C>G
NM_001024382.2:c.562-287C>G	NP_001019553.1:n.562-287C>G
XM_005271533.3:c.559-287C>G	XP_005271590.1:n.559-287C>G
XM_017017629.1:c.562-287C>G	XP_016873118.1:n.562-287C>G
XM_024448460.1:c.559-287C>G	XP_024304228.1:n.559-287C>G
NM_001258208.2:c.613-287C>G	NP_001245137.1:n.613-287C>G
NM_001258209.2:c.562-287C>G	NP_001245138.1:n.562-287C>G