Canonical Allele Identifier: CA382890680

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2735768
• ClinVar RCV Id: RCV003557674
• MyVariant Identifiers: chr11:g.118960421G>A (hg19) ; chr11:g.119089711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089711G>A , CM000673.2:g.119089711G>A	GRCh38
NC_000011.9:g.118960421G>A , CM000673.1:g.118960421G>A	GRCh37
NC_000011.8:g.118465631G>A	NCBI36
NG_008093.1:g.9835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.130G>A	ENSP00000509288.1:p.Asp44Asn
ENST00000686690.1:n.916G>A
ENST00000691144.1:n.2036G>A
ENST00000691249.1:n.879G>A
ENST00000442944.7:c.277G>A	ENSP00000392041.3:p.Asp93Asn
ENST00000534956.2:n.244G>A
ENST00000536813.6:c.244G>A	ENSP00000438726.2:p.Asp82Asn
ENST00000546302.6:c.267-279G>A	ENSP00000445599.1:n.267-279G>A
ENST00000640813.1:c.244G>A	ENSP00000491061.1:p.Asp82Asn
ENST00000648026.1:c.289G>A	ENSP00000498044.1:p.Asp97Asn
ENST00000648374.1:c.244G>A	ENSP00000497255.1:p.Asp82Asn
ENST00000648488.1:c.244G>A	ENSP00000498079.1:p.Asp82Asn
ENST00000649823.1:n.512G>A
ENST00000649868.1:c.*3G>A	ENSP00000497548.1:n.*3G>A
ENST00000650101.1:c.226G>A	ENSP00000496970.1:p.Asp76Asn
ENST00000650307.1:n.1121G>A
ENST00000652429.1:c.295G>A MANE Select	ENSP00000498786.1:p.Asp99Asn
ENST00000278715.7:c.295G>A	ENSP00000278715.3:p.Asp99Asn
ENST00000392841.1:c.244G>A	ENSP00000376584.1:p.Asp82Asn
ENST00000442944.6:c.244G>A	ENSP00000392041.2:p.Asp82Asn
ENST00000534956.1:n.211G>A
ENST00000535253.5:c.244G>A	ENSP00000442079.1:p.Asp82Asn
ENST00000535793.5:c.*190G>A	ENSP00000439904.1:n.*190G>A
ENST00000536185.5:n.413G>A
ENST00000536813.5:c.277G>A	ENSP00000438726.1:p.Asp93Asn
ENST00000537841.5:c.244G>A	ENSP00000444730.1:p.Asp82Asn
ENST00000539986.5:c.244G>A	ENSP00000440092.1:p.Asp82Asn
ENST00000542044.5:n.740G>A
ENST00000542345.5:n.433G>A
ENST00000542729.5:c.244G>A	ENSP00000443058.1:p.Asp82Asn
ENST00000542822.5:c.*231G>A	ENSP00000444817.1:n.*231G>A
ENST00000543090.5:c.241G>A	ENSP00000445429.1:p.Asp81Asn
ENST00000543543.5:n.530G>A
ENST00000543821.5:n.441G>A
ENST00000544360.5:n.263G>A
ENST00000544387.5:c.295G>A	ENSP00000438424.1:p.Asp99Asn
ENST00000545621.5:c.*190G>A	ENSP00000444849.1:n.*190G>A
ENST00000546226.5:n.354G>A
ENST00000546302.5:c.267-279G>A	ENSP00000445599.1:n.267-279G>A
NM_000190.3:c.295G>A	NP_000181.2:p.Asp99Asn
NM_001024382.1:c.244G>A	NP_001019553.1:p.Asp82Asn
NM_001258208.1:c.295G>A	NP_001245137.1:p.Asp99Asn
NM_001258209.1:c.244G>A	NP_001245138.1:p.Asp82Asn
XM_005271531.1:c.244G>A	XP_005271588.1:p.Asp82Asn
XM_005271532.1:c.244G>A	XP_005271589.1:p.Asp82Asn
XM_005271533.2:c.241G>A	XP_005271590.1:p.Asp81Asn
XM_011542796.1:c.130G>A	XP_011541098.1:p.Asp44Asn
NM_000190.4:c.295G>A MANE Select	NP_000181.2:p.Asp99Asn
NM_001024382.2:c.244G>A	NP_001019553.1:p.Asp82Asn
XM_005271533.3:c.241G>A	XP_005271590.1:p.Asp81Asn
XM_017017629.1:c.244G>A	XP_016873118.1:p.Asp82Asn
XM_024448460.1:c.241G>A	XP_024304228.1:p.Asp81Asn
NM_001258208.2:c.295G>A	NP_001245137.1:p.Asp99Asn
NM_001258209.2:c.244G>A	NP_001245138.1:p.Asp82Asn