Canonical Allele Identifier: CA382985795

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2128292
• ClinVar RCV Id: RCV003057512
• MyVariant Identifiers: chr11:g.118955768G>A (hg19) ; chr11:g.119085058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085058G>A , CM000673.2:g.119085058G>A	GRCh38
NC_000011.9:g.118955768G>A , CM000673.1:g.118955768G>A	GRCh37
NC_000011.8:g.118460978G>A	NCBI36
NG_008093.1:g.5182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.25G>A	ENSP00000392041.3:p.Ala9Thr
ENST00000534956.2:n.28G>A
ENST00000536813.6:c.-110G>A	ENSP00000438726.2:n.-110G>A
ENST00000546302.6:c.25G>A	ENSP00000445599.1:p.Ala9Thr
ENST00000640813.1:c.-27G>A	ENSP00000491061.1:n.-27G>A
ENST00000648026.1:c.19G>A	ENSP00000498044.1:p.Ala7Thr
ENST00000649868.1:c.25G>A	ENSP00000497548.1:p.Ala9Thr
ENST00000652429.1:c.25G>A MANE Select	ENSP00000498786.1:p.Ala9Thr
ENST00000278715.7:c.25G>A	ENSP00000278715.3:p.Ala9Thr
ENST00000442944.6:c.-110G>A	ENSP00000392041.2:n.-110G>A
ENST00000535793.5:c.25G>A	ENSP00000439904.1:p.Ala9Thr
ENST00000536185.5:n.193G>A
ENST00000536813.5:c.25G>A	ENSP00000438726.1:p.Ala9Thr
ENST00000537841.5:c.-118G>A	ENSP00000444730.1:n.-118G>A
ENST00000542044.5:n.150G>A
ENST00000542729.5:c.-118G>A	ENSP00000443058.1:n.-118G>A
ENST00000542822.5:c.25G>A	ENSP00000444817.1:p.Ala9Thr
ENST00000543090.5:c.25G>A	ENSP00000445429.1:p.Ala9Thr
ENST00000543821.5:n.171G>A
ENST00000544387.5:c.25G>A	ENSP00000438424.1:p.Ala9Thr
ENST00000545621.5:c.25G>A	ENSP00000444849.1:p.Ala9Thr
ENST00000545901.5:n.178G>A
ENST00000546302.5:c.25G>A	ENSP00000445599.1:p.Ala9Thr
NM_000190.3:c.25G>A	NP_000181.2:p.Ala9Thr
NM_001258208.1:c.25G>A	NP_001245137.1:p.Ala9Thr
NM_001258209.1:c.-118G>A	NP_001245138.1:n.-118G>A
XM_005271531.1:c.-118G>A	XP_005271588.1:n.-118G>A
XM_005271532.1:c.-94G>A	XP_005271589.1:n.-94G>A
XM_005271533.2:c.25G>A	XP_005271590.1:p.Ala9Thr
NM_000190.4:c.25G>A MANE Select	NP_000181.2:p.Ala9Thr
XM_005271533.3:c.25G>A	XP_005271590.1:p.Ala9Thr
XM_024448460.1:c.25G>A	XP_024304228.1:p.Ala9Thr
NM_001258208.2:c.25G>A	NP_001245137.1:p.Ala9Thr
NM_001258209.2:c.-118G>A	NP_001245138.1:n.-118G>A