Canonical Allele Identifier: CA2003793265
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093141T= , CM000673.2:g.119093141T= GRCh38
NC_000011.9:g.118963851T= , CM000673.1:g.118963851T= GRCh37
NC_000011.8:g.118469061T= NCBI36
NG_008093.1:g.13265T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.779T= ENSP00000509288.1:p.Leu260=
ENST00000691144.1:n.3159T=
ENST00000691249.1:n.1768T=
ENST00000442944.7:c.926T= ENSP00000392041.3:p.Leu309=
ENST00000640813.1:c.*181T= ENSP00000491061.1:n.*181T=
ENST00000648026.1:c.838T= ENSP00000498044.1:n.838T=
ENST00000648374.1:c.893T= ENSP00000497255.1:p.Leu298=
ENST00000650101.1:c.875T= ENSP00000496970.1:p.Leu292=
ENST00000650307.1:n.1770T=
ENST00000652429.1:c.944T= MANE Select ENSP00000498786.1:p.Leu315=
ENST00000278715.7:c.944T= ENSP00000278715.3:p.Leu315=
ENST00000392841.1:c.893T= ENSP00000376584.1:p.Leu298=
ENST00000442944.6:c.893T= ENSP00000392041.2:p.Leu298=
ENST00000537841.5:c.893T= ENSP00000444730.1:p.Leu298=
ENST00000539045.1:n.443T=
ENST00000542044.5:n.1389T=
ENST00000542729.5:c.773T= ENSP00000443058.1:p.Leu258=
ENST00000543090.5:c.851T= ENSP00000445429.1:p.Leu284=
ENST00000543543.5:n.1419T=
ENST00000544182.1:n.1393T=
ENST00000544387.5:c.824T= ENSP00000438424.1:p.Leu275=
ENST00000546226.5:n.1706T=
NM_000190.3:c.944T= NP_000181.2:p.Leu315=
NM_001024382.1:c.893T= NP_001019553.1:p.Leu298=
NM_001258208.1:c.824T= NP_001245137.1:p.Leu275=
NM_001258209.1:c.773T= NP_001245138.1:p.Leu258=
XM_005271531.1:c.893T= XP_005271588.1:p.Leu298=
XM_005271532.1:c.893T= XP_005271589.1:p.Leu298=
XM_005271533.2:c.890T= XP_005271590.1:p.Leu297=
XM_011542796.1:c.779T= XP_011541098.1:p.Leu260=
NM_000190.4:c.944T= MANE Select NP_000181.2:p.Leu315=
NM_001024382.2:c.893T= NP_001019553.1:p.Leu298=
XM_005271533.3:c.890T= XP_005271590.1:p.Leu297=
XM_017017629.1:c.893T= XP_016873118.1:p.Leu298=
XM_024448460.1:c.770T= XP_024304228.1:p.Leu257=
NM_001258208.2:c.824T= NP_001245137.1:p.Leu275=
NM_001258209.2:c.773T= NP_001245138.1:p.Leu258=