Canonical Allele Identifier: CA6314299

Gene: HMBS

Linked Data

• ClinVar Variation Id: 302734
• ClinVar RCV Id: RCV000264779 ; RCV000896602 ; RCV003920242
• dbSNP Id: rs146585331
• ExAC: 11:118963927 C / T
• gnomAD v2: 11-118963927-C-T
• gnomAD v3: 11-119093217-C-T
• gnomAD v4: 11-119093217-C-T
• MyVariant Identifiers: chr11:g.118963927C>T (hg19) ; chr11:g.119093217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093217C>T , CM000673.2:g.119093217C>T	GRCh38
NC_000011.9:g.118963927C>T , CM000673.1:g.118963927C>T	GRCh37
NC_000011.8:g.118469137C>T	NCBI36
NG_008093.1:g.13341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.855C>T	ENSP00000509288.1:p.Asn285=
ENST00000691144.1:n.3235C>T
ENST00000691249.1:n.1844C>T
ENST00000442944.7:c.1002C>T	ENSP00000392041.3:p.Asn334=
ENST00000640813.1:c.*257C>T	ENSP00000491061.1:n.*257C>T
ENST00000648026.1:c.914C>T	ENSP00000498044.1:n.914C>T
ENST00000648374.1:c.969C>T	ENSP00000497255.1:p.Asn323=
ENST00000650101.1:c.951C>T	ENSP00000496970.1:p.Asn317=
ENST00000650307.1:n.1846C>T
ENST00000652429.1:c.1020C>T MANE Select	ENSP00000498786.1:p.Asn340=
ENST00000278715.7:c.1020C>T	ENSP00000278715.3:p.Asn340=
ENST00000392841.1:c.969C>T	ENSP00000376584.1:p.Asn323=
ENST00000442944.6:c.969C>T	ENSP00000392041.2:p.Asn323=
ENST00000537841.5:c.969C>T	ENSP00000444730.1:p.Asn323=
ENST00000539045.1:n.519C>T
ENST00000542044.5:n.1465C>T
ENST00000542729.5:c.849C>T	ENSP00000443058.1:p.Asn283=
ENST00000543090.5:c.927C>T	ENSP00000445429.1:p.Asn309=
ENST00000543543.5:n.1495C>T
ENST00000544182.1:n.1469C>T
ENST00000544387.5:c.900C>T	ENSP00000438424.1:p.Asn300=
ENST00000546226.5:n.1782C>T
NM_000190.3:c.1020C>T	NP_000181.2:p.Asn340=
NM_001024382.1:c.969C>T	NP_001019553.1:p.Asn323=
NM_001258208.1:c.900C>T	NP_001245137.1:p.Asn300=
NM_001258209.1:c.849C>T	NP_001245138.1:p.Asn283=
XM_005271531.1:c.969C>T	XP_005271588.1:p.Asn323=
XM_005271532.1:c.969C>T	XP_005271589.1:p.Asn323=
XM_005271533.2:c.966C>T	XP_005271590.1:p.Asn322=
XM_011542796.1:c.855C>T	XP_011541098.1:p.Asn285=
NM_000190.4:c.1020C>T MANE Select	NP_000181.2:p.Asn340=
NM_001024382.2:c.969C>T	NP_001019553.1:p.Asn323=
XM_005271533.3:c.966C>T	XP_005271590.1:p.Asn322=
XM_017017629.1:c.969C>T	XP_016873118.1:p.Asn323=
XM_024448460.1:c.846C>T	XP_024304228.1:p.Asn282=
NM_001258208.2:c.900C>T	NP_001245137.1:p.Asn300=
NM_001258209.2:c.849C>T	NP_001245138.1:p.Asn283=