Canonical Allele Identifier: CA382899834

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963933G>T (hg19) ; chr11:g.119093223G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093223G>T , CM000673.2:g.119093223G>T	GRCh38
NC_000011.9:g.118963933G>T , CM000673.1:g.118963933G>T	GRCh37
NC_000011.8:g.118469143G>T	NCBI36
NG_008093.1:g.13347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.861G>T	ENSP00000509288.1:p.Leu287Phe
ENST00000691144.1:n.3241G>T
ENST00000691249.1:n.1850G>T
ENST00000442944.7:c.1008G>T	ENSP00000392041.3:p.Leu336Phe
ENST00000640813.1:c.*263G>T	ENSP00000491061.1:n.*263G>T
ENST00000648026.1:c.920G>T	ENSP00000498044.1:n.920G>T
ENST00000648374.1:c.975G>T	ENSP00000497255.1:p.Leu325Phe
ENST00000650101.1:c.957G>T	ENSP00000496970.1:p.Leu319Phe
ENST00000650307.1:n.1852G>T
ENST00000652429.1:c.1026G>T MANE Select	ENSP00000498786.1:p.Leu342Phe
ENST00000278715.7:c.1026G>T	ENSP00000278715.3:p.Leu342Phe
ENST00000392841.1:c.975G>T	ENSP00000376584.1:p.Leu325Phe
ENST00000442944.6:c.975G>T	ENSP00000392041.2:p.Leu325Phe
ENST00000537841.5:c.975G>T	ENSP00000444730.1:p.Leu325Phe
ENST00000539045.1:n.525G>T
ENST00000542044.5:n.1471G>T
ENST00000542729.5:c.855G>T	ENSP00000443058.1:p.Leu285Phe
ENST00000543090.5:c.933G>T	ENSP00000445429.1:p.Leu311Phe
ENST00000543543.5:n.1501G>T
ENST00000544182.1:n.1475G>T
ENST00000544387.5:c.906G>T	ENSP00000438424.1:p.Leu302Phe
ENST00000546226.5:n.1788G>T
NM_000190.3:c.1026G>T	NP_000181.2:p.Leu342Phe
NM_001024382.1:c.975G>T	NP_001019553.1:p.Leu325Phe
NM_001258208.1:c.906G>T	NP_001245137.1:p.Leu302Phe
NM_001258209.1:c.855G>T	NP_001245138.1:p.Leu285Phe
XM_005271531.1:c.975G>T	XP_005271588.1:p.Leu325Phe
XM_005271532.1:c.975G>T	XP_005271589.1:p.Leu325Phe
XM_005271533.2:c.972G>T	XP_005271590.1:p.Leu324Phe
XM_011542796.1:c.861G>T	XP_011541098.1:p.Leu287Phe
NM_000190.4:c.1026G>T MANE Select	NP_000181.2:p.Leu342Phe
NM_001024382.2:c.975G>T	NP_001019553.1:p.Leu325Phe
XM_005271533.3:c.972G>T	XP_005271590.1:p.Leu324Phe
XM_017017629.1:c.975G>T	XP_016873118.1:p.Leu325Phe
XM_024448460.1:c.852G>T	XP_024304228.1:p.Leu284Phe
NM_001258208.2:c.906G>T	NP_001245137.1:p.Leu302Phe
NM_001258209.2:c.855G>T	NP_001245138.1:p.Leu285Phe