Canonical Allele Identifier: CA382898649

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963648T>A (hg19) ; chr11:g.119092938T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092938T>A , CM000673.2:g.119092938T>A	GRCh38
NC_000011.9:g.118963648T>A , CM000673.1:g.118963648T>A	GRCh37
NC_000011.8:g.118468858T>A	NCBI36
NG_008093.1:g.13062T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.664T>A	ENSP00000509288.1:p.Tyr222Asn
ENST00000691144.1:n.3044T>A
ENST00000691249.1:n.1653T>A
ENST00000442944.7:c.811T>A	ENSP00000392041.3:p.Tyr271Asn
ENST00000640813.1:c.*66T>A	ENSP00000491061.1:n.*66T>A
ENST00000648026.1:c.723T>A	ENSP00000498044.1:n.723T>A
ENST00000648374.1:c.778T>A	ENSP00000497255.1:p.Tyr260Asn
ENST00000649823.1:n.1286T>A
ENST00000650101.1:c.760T>A	ENSP00000496970.1:p.Tyr254Asn
ENST00000650307.1:n.1655T>A
ENST00000652429.1:c.829T>A MANE Select	ENSP00000498786.1:p.Tyr277Asn
ENST00000278715.7:c.829T>A	ENSP00000278715.3:p.Tyr277Asn
ENST00000392841.1:c.778T>A	ENSP00000376584.1:p.Tyr260Asn
ENST00000442944.6:c.778T>A	ENSP00000392041.2:p.Tyr260Asn
ENST00000537841.5:c.778T>A	ENSP00000444730.1:p.Tyr260Asn
ENST00000539045.1:n.328T>A
ENST00000542044.5:n.1274T>A
ENST00000542729.5:c.658T>A	ENSP00000443058.1:p.Tyr220Asn
ENST00000543090.5:c.736T>A	ENSP00000445429.1:p.Tyr246Asn
ENST00000543543.5:n.1304T>A
ENST00000544182.1:n.1278T>A
ENST00000544387.5:c.709T>A	ENSP00000438424.1:p.Tyr237Asn
ENST00000546226.5:n.1591T>A
NM_000190.3:c.829T>A	NP_000181.2:p.Tyr277Asn
NM_001024382.1:c.778T>A	NP_001019553.1:p.Tyr260Asn
NM_001258208.1:c.709T>A	NP_001245137.1:p.Tyr237Asn
NM_001258209.1:c.658T>A	NP_001245138.1:p.Tyr220Asn
XM_005271531.1:c.778T>A	XP_005271588.1:p.Tyr260Asn
XM_005271532.1:c.778T>A	XP_005271589.1:p.Tyr260Asn
XM_005271533.2:c.775T>A	XP_005271590.1:p.Tyr259Asn
XM_011542796.1:c.664T>A	XP_011541098.1:p.Tyr222Asn
NM_000190.4:c.829T>A MANE Select	NP_000181.2:p.Tyr277Asn
NM_001024382.2:c.778T>A	NP_001019553.1:p.Tyr260Asn
XM_005271533.3:c.775T>A	XP_005271590.1:p.Tyr259Asn
XM_017017629.1:c.778T>A	XP_016873118.1:p.Tyr260Asn
XM_024448460.1:c.655T>A	XP_024304228.1:p.Tyr219Asn
NM_001258208.2:c.709T>A	NP_001245137.1:p.Tyr237Asn
NM_001258209.2:c.658T>A	NP_001245138.1:p.Tyr220Asn