Canonical Allele Identifier: CA382900031
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093254G>C , CM000673.2:g.119093254G>C GRCh38
NC_000011.9:g.118963964G>C , CM000673.1:g.118963964G>C GRCh37
NC_000011.8:g.118469174G>C NCBI36
NG_008093.1:g.13378G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.892G>C ENSP00000509288.1:p.Val298Leu
ENST00000691144.1:n.3272G>C
ENST00000691249.1:n.1881G>C
ENST00000442944.7:c.1039G>C ENSP00000392041.3:p.Val347Leu
ENST00000640813.1:c.*294G>C ENSP00000491061.1:n.*294G>C
ENST00000648026.1:c.951G>C ENSP00000498044.1:n.951G>C
ENST00000648374.1:c.1006G>C ENSP00000497255.1:p.Val336Leu
ENST00000650101.1:c.988G>C ENSP00000496970.1:p.Val330Leu
ENST00000650307.1:n.1883G>C
ENST00000652429.1:c.1057G>C MANE Select ENSP00000498786.1:p.Val353Leu
ENST00000278715.7:c.1057G>C ENSP00000278715.3:p.Val353Leu
ENST00000392841.1:c.1006G>C ENSP00000376584.1:p.Val336Leu
ENST00000442944.6:c.1006G>C ENSP00000392041.2:p.Val336Leu
ENST00000537841.5:c.1006G>C ENSP00000444730.1:p.Val336Leu
ENST00000539045.1:n.556G>C
ENST00000542044.5:n.1502G>C
ENST00000542729.5:c.886G>C ENSP00000443058.1:p.Val296Leu
ENST00000543090.5:c.964G>C ENSP00000445429.1:p.Val322Leu
ENST00000543543.5:n.1532G>C
ENST00000544182.1:n.1506G>C
ENST00000544387.5:c.937G>C ENSP00000438424.1:p.Val313Leu
ENST00000546226.5:n.1819G>C
NM_000190.3:c.1057G>C NP_000181.2:p.Val353Leu
NM_001024382.1:c.1006G>C NP_001019553.1:p.Val336Leu
NM_001258208.1:c.937G>C NP_001245137.1:p.Val313Leu
NM_001258209.1:c.886G>C NP_001245138.1:p.Val296Leu
XM_005271531.1:c.1006G>C XP_005271588.1:p.Val336Leu
XM_005271532.1:c.1006G>C XP_005271589.1:p.Val336Leu
XM_005271533.2:c.1003G>C XP_005271590.1:p.Val335Leu
XM_011542796.1:c.892G>C XP_011541098.1:p.Val298Leu
NM_000190.4:c.1057G>C MANE Select NP_000181.2:p.Val353Leu
NM_001024382.2:c.1006G>C NP_001019553.1:p.Val336Leu
XM_005271533.3:c.1003G>C XP_005271590.1:p.Val335Leu
XM_017017629.1:c.1006G>C XP_016873118.1:p.Val336Leu
XM_024448460.1:c.883G>C XP_024304228.1:p.Val295Leu
NM_001258208.2:c.937G>C NP_001245137.1:p.Val313Leu
NM_001258209.2:c.886G>C NP_001245138.1:p.Val296Leu