Canonical Allele Identifier: CA382897489

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963158G>T (hg19) ; chr11:g.119092448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092448G>T , CM000673.2:g.119092448G>T	GRCh38
NC_000011.9:g.118963158G>T , CM000673.1:g.118963158G>T	GRCh37
NC_000011.8:g.118468368G>T	NCBI36
NG_008093.1:g.12572G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.531G>T	ENSP00000509288.1:p.Leu177Phe
ENST00000691144.1:n.2677G>T
ENST00000691249.1:n.1520G>T
ENST00000442944.7:c.678G>T	ENSP00000392041.3:p.Leu226Phe
ENST00000536813.6:c.645G>T	ENSP00000438726.2:p.Leu215Phe
ENST00000640813.1:c.506G>T	ENSP00000491061.1:p.Trp169Leu
ENST00000648026.1:c.590G>T	ENSP00000498044.1:p.Trp197Leu
ENST00000648374.1:c.645G>T	ENSP00000497255.1:p.Leu215Phe
ENST00000649823.1:n.1153G>T
ENST00000650101.1:c.627G>T	ENSP00000496970.1:p.Leu209Phe
ENST00000650307.1:n.1522G>T
ENST00000652429.1:c.696G>T MANE Select	ENSP00000498786.1:p.Leu232Phe
ENST00000278715.7:c.696G>T	ENSP00000278715.3:p.Leu232Phe
ENST00000392841.1:c.645G>T	ENSP00000376584.1:p.Leu215Phe
ENST00000442944.6:c.645G>T	ENSP00000392041.2:p.Leu215Phe
ENST00000537841.5:c.645G>T	ENSP00000444730.1:p.Leu215Phe
ENST00000542044.5:n.1141G>T
ENST00000542729.5:c.600+285G>T	ENSP00000443058.1:n.600+285G>T
ENST00000543090.5:c.603G>T	ENSP00000445429.1:p.Leu201Phe
ENST00000543543.5:n.1171G>T
ENST00000544182.1:n.911G>T
ENST00000544387.5:c.651+285G>T	ENSP00000438424.1:n.651+285G>T
ENST00000545621.5:c.*831G>T	ENSP00000444849.1:n.*831G>T
ENST00000546226.5:n.1224G>T
NM_000190.3:c.696G>T	NP_000181.2:p.Leu232Phe
NM_001024382.1:c.645G>T	NP_001019553.1:p.Leu215Phe
NM_001258208.1:c.651+285G>T	NP_001245137.1:n.651+285G>T
NM_001258209.1:c.600+285G>T	NP_001245138.1:n.600+285G>T
XM_005271531.1:c.645G>T	XP_005271588.1:p.Leu215Phe
XM_005271532.1:c.645G>T	XP_005271589.1:p.Leu215Phe
XM_005271533.2:c.642G>T	XP_005271590.1:p.Leu214Phe
XM_011542796.1:c.531G>T	XP_011541098.1:p.Leu177Phe
NM_000190.4:c.696G>T MANE Select	NP_000181.2:p.Leu232Phe
NM_001024382.2:c.645G>T	NP_001019553.1:p.Leu215Phe
XM_005271533.3:c.642G>T	XP_005271590.1:p.Leu214Phe
XM_017017629.1:c.645G>T	XP_016873118.1:p.Leu215Phe
XM_024448460.1:c.597+285G>T	XP_024304228.1:n.597+285G>T
NM_001258208.2:c.651+285G>T	NP_001245137.1:n.651+285G>T
NM_001258209.2:c.600+285G>T	NP_001245138.1:n.600+285G>T