Canonical Allele Identifier: CA229644405

Gene: HMBS

Linked Data

• ClinVar Variation Id: 755011
• ClinVar RCV Id: RCV000932376
• dbSNP Id: rs782243560
• gnomAD v2: 11-118955773-G-A
• gnomAD v3: 11-119085063-G-A
• gnomAD v4: 11-119085063-G-A
• MyVariant Identifiers: chr11:g.118955773G>A (hg19) ; chr11:g.119085063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085063G>A , CM000673.2:g.119085063G>A	GRCh38
NC_000011.9:g.118955773G>A , CM000673.1:g.118955773G>A	GRCh37
NC_000011.8:g.118460983G>A	NCBI36
NG_008093.1:g.5187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.30G>A	ENSP00000392041.3:p.Thr10=
ENST00000534956.2:n.33G>A
ENST00000536813.6:c.-105G>A	ENSP00000438726.2:n.-105G>A
ENST00000546302.6:c.30G>A	ENSP00000445599.1:p.Thr10=
ENST00000640813.1:c.-22G>A	ENSP00000491061.1:n.-22G>A
ENST00000648026.1:c.24G>A	ENSP00000498044.1:p.Thr8=
ENST00000649868.1:c.30G>A	ENSP00000497548.1:p.Thr10=
ENST00000652429.1:c.30G>A MANE Select	ENSP00000498786.1:p.Thr10=
ENST00000278715.7:c.30G>A	ENSP00000278715.3:p.Thr10=
ENST00000442944.6:c.-105G>A	ENSP00000392041.2:n.-105G>A
ENST00000535793.5:c.30G>A	ENSP00000439904.1:p.Thr10=
ENST00000536185.5:n.198G>A
ENST00000536813.5:c.30G>A	ENSP00000438726.1:p.Thr10=
ENST00000537841.5:c.-113G>A	ENSP00000444730.1:n.-113G>A
ENST00000542044.5:n.155G>A
ENST00000542729.5:c.-113G>A	ENSP00000443058.1:n.-113G>A
ENST00000542822.5:c.30G>A	ENSP00000444817.1:p.Thr10=
ENST00000543090.5:c.30G>A	ENSP00000445429.1:p.Thr10=
ENST00000543821.5:n.176G>A
ENST00000544387.5:c.30G>A	ENSP00000438424.1:p.Thr10=
ENST00000545621.5:c.30G>A	ENSP00000444849.1:p.Thr10=
ENST00000545901.5:n.183G>A
ENST00000546302.5:c.30G>A	ENSP00000445599.1:p.Thr10=
NM_000190.3:c.30G>A	NP_000181.2:p.Thr10=
NM_001258208.1:c.30G>A	NP_001245137.1:p.Thr10=
NM_001258209.1:c.-113G>A	NP_001245138.1:n.-113G>A
XM_005271531.1:c.-113G>A	XP_005271588.1:n.-113G>A
XM_005271532.1:c.-89G>A	XP_005271589.1:n.-89G>A
XM_005271533.2:c.30G>A	XP_005271590.1:p.Thr10=
NM_000190.4:c.30G>A MANE Select	NP_000181.2:p.Thr10=
XM_005271533.3:c.30G>A	XP_005271590.1:p.Thr10=
XM_024448460.1:c.30G>A	XP_024304228.1:p.Thr10=
NM_001258208.2:c.30G>A	NP_001245137.1:p.Thr10=
NM_001258209.2:c.-113G>A	NP_001245138.1:n.-113G>A