Canonical Allele Identifier: CA229597331

Gene: HMBS

Linked Data

• dbSNP Id: rs1002806030
• gnomAD v3: 11-119093163-C-T
• gnomAD v4: 11-119093163-C-T
• MyVariant Identifiers: chr11:g.118963873C>T (hg19) ; chr11:g.119093163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093163C>T , CM000673.2:g.119093163C>T	GRCh38
NC_000011.9:g.118963873C>T , CM000673.1:g.118963873C>T	GRCh37
NC_000011.8:g.118469083C>T	NCBI36
NG_008093.1:g.13287C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.801C>T	ENSP00000509288.1:p.Asn267=
ENST00000691144.1:n.3181C>T
ENST00000691249.1:n.1790C>T
ENST00000442944.7:c.948C>T	ENSP00000392041.3:p.Asn316=
ENST00000640813.1:c.*203C>T	ENSP00000491061.1:n.*203C>T
ENST00000648026.1:c.860C>T	ENSP00000498044.1:n.860C>T
ENST00000648374.1:c.915C>T	ENSP00000497255.1:p.Asn305=
ENST00000650101.1:c.897C>T	ENSP00000496970.1:p.Asn299=
ENST00000650307.1:n.1792C>T
ENST00000652429.1:c.966C>T MANE Select	ENSP00000498786.1:p.Asn322=
ENST00000278715.7:c.966C>T	ENSP00000278715.3:p.Asn322=
ENST00000392841.1:c.915C>T	ENSP00000376584.1:p.Asn305=
ENST00000442944.6:c.915C>T	ENSP00000392041.2:p.Asn305=
ENST00000537841.5:c.915C>T	ENSP00000444730.1:p.Asn305=
ENST00000539045.1:n.465C>T
ENST00000542044.5:n.1411C>T
ENST00000542729.5:c.795C>T	ENSP00000443058.1:p.Asn265=
ENST00000543090.5:c.873C>T	ENSP00000445429.1:p.Asn291=
ENST00000543543.5:n.1441C>T
ENST00000544182.1:n.1415C>T
ENST00000544387.5:c.846C>T	ENSP00000438424.1:p.Asn282=
ENST00000546226.5:n.1728C>T
NM_000190.3:c.966C>T	NP_000181.2:p.Asn322=
NM_001024382.1:c.915C>T	NP_001019553.1:p.Asn305=
NM_001258208.1:c.846C>T	NP_001245137.1:p.Asn282=
NM_001258209.1:c.795C>T	NP_001245138.1:p.Asn265=
XM_005271531.1:c.915C>T	XP_005271588.1:p.Asn305=
XM_005271532.1:c.915C>T	XP_005271589.1:p.Asn305=
XM_005271533.2:c.912C>T	XP_005271590.1:p.Asn304=
XM_011542796.1:c.801C>T	XP_011541098.1:p.Asn267=
NM_000190.4:c.966C>T MANE Select	NP_000181.2:p.Asn322=
NM_001024382.2:c.915C>T	NP_001019553.1:p.Asn305=
XM_005271533.3:c.912C>T	XP_005271590.1:p.Asn304=
XM_017017629.1:c.915C>T	XP_016873118.1:p.Asn305=
XM_024448460.1:c.792C>T	XP_024304228.1:p.Asn264=
NM_001258208.2:c.846C>T	NP_001245137.1:p.Asn282=
NM_001258209.2:c.795C>T	NP_001245138.1:p.Asn265=