Canonical Allele Identifier: CA382898001

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963220T>G (hg19) ; chr11:g.119092510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092510T>G , CM000673.2:g.119092510T>G	GRCh38
NC_000011.9:g.118963220T>G , CM000673.1:g.118963220T>G	GRCh37
NC_000011.8:g.118468430T>G	NCBI36
NG_008093.1:g.12634T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.593T>G	ENSP00000509288.1:p.Phe198Cys
ENST00000691144.1:n.2739T>G
ENST00000691249.1:n.1582T>G
ENST00000442944.7:c.740T>G	ENSP00000392041.3:p.Phe247Cys
ENST00000640813.1:c.568T>G	ENSP00000491061.1:p.Ser190Ala
ENST00000648026.1:c.652T>G	ENSP00000498044.1:p.Ser218Ala
ENST00000648374.1:c.707T>G	ENSP00000497255.1:p.Phe236Cys
ENST00000649823.1:n.1215T>G
ENST00000650101.1:c.689T>G	ENSP00000496970.1:p.Phe230Cys
ENST00000650307.1:n.1584T>G
ENST00000652429.1:c.758T>G MANE Select	ENSP00000498786.1:p.Phe253Cys
ENST00000278715.7:c.758T>G	ENSP00000278715.3:p.Phe253Cys
ENST00000392841.1:c.707T>G	ENSP00000376584.1:p.Phe236Cys
ENST00000442944.6:c.707T>G	ENSP00000392041.2:p.Phe236Cys
ENST00000537841.5:c.707T>G	ENSP00000444730.1:p.Phe236Cys
ENST00000542044.5:n.1203T>G
ENST00000542729.5:c.601-248T>G	ENSP00000443058.1:n.601-248T>G
ENST00000543090.5:c.665T>G	ENSP00000445429.1:p.Phe222Cys
ENST00000543543.5:n.1233T>G
ENST00000544182.1:n.973T>G
ENST00000544387.5:c.652-248T>G	ENSP00000438424.1:n.652-248T>G
ENST00000546226.5:n.1286T>G
NM_000190.3:c.758T>G	NP_000181.2:p.Phe253Cys
NM_001024382.1:c.707T>G	NP_001019553.1:p.Phe236Cys
NM_001258208.1:c.652-248T>G	NP_001245137.1:n.652-248T>G
NM_001258209.1:c.601-248T>G	NP_001245138.1:n.601-248T>G
XM_005271531.1:c.707T>G	XP_005271588.1:p.Phe236Cys
XM_005271532.1:c.707T>G	XP_005271589.1:p.Phe236Cys
XM_005271533.2:c.704T>G	XP_005271590.1:p.Phe235Cys
XM_011542796.1:c.593T>G	XP_011541098.1:p.Phe198Cys
NM_000190.4:c.758T>G MANE Select	NP_000181.2:p.Phe253Cys
NM_001024382.2:c.707T>G	NP_001019553.1:p.Phe236Cys
XM_005271533.3:c.704T>G	XP_005271590.1:p.Phe235Cys
XM_017017629.1:c.707T>G	XP_016873118.1:p.Phe236Cys
XM_024448460.1:c.598-248T>G	XP_024304228.1:n.598-248T>G
NM_001258208.2:c.652-248T>G	NP_001245137.1:n.652-248T>G
NM_001258209.2:c.601-248T>G	NP_001245138.1:n.601-248T>G