Canonical Allele Identifier: CA382899830

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963932T>A (hg19) ; chr11:g.119093222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093222T>A , CM000673.2:g.119093222T>A	GRCh38
NC_000011.9:g.118963932T>A , CM000673.1:g.118963932T>A	GRCh37
NC_000011.8:g.118469142T>A	NCBI36
NG_008093.1:g.13346T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.860T>A	ENSP00000509288.1:p.Leu287Ter
ENST00000691144.1:n.3240T>A
ENST00000691249.1:n.1849T>A
ENST00000442944.7:c.1007T>A	ENSP00000392041.3:p.Leu336Ter
ENST00000640813.1:c.*262T>A	ENSP00000491061.1:n.*262T>A
ENST00000648026.1:c.919T>A	ENSP00000498044.1:n.919T>A
ENST00000648374.1:c.974T>A	ENSP00000497255.1:p.Leu325Ter
ENST00000650101.1:c.956T>A	ENSP00000496970.1:p.Leu319Ter
ENST00000650307.1:n.1851T>A
ENST00000652429.1:c.1025T>A MANE Select	ENSP00000498786.1:p.Leu342Ter
ENST00000278715.7:c.1025T>A	ENSP00000278715.3:p.Leu342Ter
ENST00000392841.1:c.974T>A	ENSP00000376584.1:p.Leu325Ter
ENST00000442944.6:c.974T>A	ENSP00000392041.2:p.Leu325Ter
ENST00000537841.5:c.974T>A	ENSP00000444730.1:p.Leu325Ter
ENST00000539045.1:n.524T>A
ENST00000542044.5:n.1470T>A
ENST00000542729.5:c.854T>A	ENSP00000443058.1:p.Leu285Ter
ENST00000543090.5:c.932T>A	ENSP00000445429.1:p.Leu311Ter
ENST00000543543.5:n.1500T>A
ENST00000544182.1:n.1474T>A
ENST00000544387.5:c.905T>A	ENSP00000438424.1:p.Leu302Ter
ENST00000546226.5:n.1787T>A
NM_000190.3:c.1025T>A	NP_000181.2:p.Leu342Ter
NM_001024382.1:c.974T>A	NP_001019553.1:p.Leu325Ter
NM_001258208.1:c.905T>A	NP_001245137.1:p.Leu302Ter
NM_001258209.1:c.854T>A	NP_001245138.1:p.Leu285Ter
XM_005271531.1:c.974T>A	XP_005271588.1:p.Leu325Ter
XM_005271532.1:c.974T>A	XP_005271589.1:p.Leu325Ter
XM_005271533.2:c.971T>A	XP_005271590.1:p.Leu324Ter
XM_011542796.1:c.860T>A	XP_011541098.1:p.Leu287Ter
NM_000190.4:c.1025T>A MANE Select	NP_000181.2:p.Leu342Ter
NM_001024382.2:c.974T>A	NP_001019553.1:p.Leu325Ter
XM_005271533.3:c.971T>A	XP_005271590.1:p.Leu324Ter
XM_017017629.1:c.974T>A	XP_016873118.1:p.Leu325Ter
XM_024448460.1:c.851T>A	XP_024304228.1:p.Leu284Ter
NM_001258208.2:c.905T>A	NP_001245137.1:p.Leu302Ter
NM_001258209.2:c.854T>A	NP_001245138.1:p.Leu285Ter