Canonical Allele Identifier: CA382897865

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963202G>T (hg19) ; chr11:g.119092492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092492G>T , CM000673.2:g.119092492G>T	GRCh38
NC_000011.9:g.118963202G>T , CM000673.1:g.118963202G>T	GRCh37
NC_000011.8:g.118468412G>T	NCBI36
NG_008093.1:g.12616G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.575G>T	ENSP00000509288.1:p.Cys192Phe
ENST00000691144.1:n.2721G>T
ENST00000691249.1:n.1564G>T
ENST00000442944.7:c.722G>T	ENSP00000392041.3:p.Cys241Phe
ENST00000640813.1:c.550G>T	ENSP00000491061.1:p.Ala184Ser
ENST00000648026.1:c.634G>T	ENSP00000498044.1:p.Ala212Ser
ENST00000648374.1:c.689G>T	ENSP00000497255.1:p.Cys230Phe
ENST00000649823.1:n.1197G>T
ENST00000650101.1:c.671G>T	ENSP00000496970.1:p.Cys224Phe
ENST00000650307.1:n.1566G>T
ENST00000652429.1:c.740G>T MANE Select	ENSP00000498786.1:p.Cys247Phe
ENST00000278715.7:c.740G>T	ENSP00000278715.3:p.Cys247Phe
ENST00000392841.1:c.689G>T	ENSP00000376584.1:p.Cys230Phe
ENST00000442944.6:c.689G>T	ENSP00000392041.2:p.Cys230Phe
ENST00000537841.5:c.689G>T	ENSP00000444730.1:p.Cys230Phe
ENST00000542044.5:n.1185G>T
ENST00000542729.5:c.601-266G>T	ENSP00000443058.1:n.601-266G>T
ENST00000543090.5:c.647G>T	ENSP00000445429.1:p.Cys216Phe
ENST00000543543.5:n.1215G>T
ENST00000544182.1:n.955G>T
ENST00000544387.5:c.652-266G>T	ENSP00000438424.1:n.652-266G>T
ENST00000545621.5:c.*875G>T	ENSP00000444849.1:n.*875G>T
ENST00000546226.5:n.1268G>T
NM_000190.3:c.740G>T	NP_000181.2:p.Cys247Phe
NM_001024382.1:c.689G>T	NP_001019553.1:p.Cys230Phe
NM_001258208.1:c.652-266G>T	NP_001245137.1:n.652-266G>T
NM_001258209.1:c.601-266G>T	NP_001245138.1:n.601-266G>T
XM_005271531.1:c.689G>T	XP_005271588.1:p.Cys230Phe
XM_005271532.1:c.689G>T	XP_005271589.1:p.Cys230Phe
XM_005271533.2:c.686G>T	XP_005271590.1:p.Cys229Phe
XM_011542796.1:c.575G>T	XP_011541098.1:p.Cys192Phe
NM_000190.4:c.740G>T MANE Select	NP_000181.2:p.Cys247Phe
NM_001024382.2:c.689G>T	NP_001019553.1:p.Cys230Phe
XM_005271533.3:c.686G>T	XP_005271590.1:p.Cys229Phe
XM_017017629.1:c.689G>T	XP_016873118.1:p.Cys230Phe
XM_024448460.1:c.598-266G>T	XP_024304228.1:n.598-266G>T
NM_001258208.2:c.652-266G>T	NP_001245137.1:n.652-266G>T
NM_001258209.2:c.601-266G>T	NP_001245138.1:n.601-266G>T