Canonical Allele Identifier: CA382897906

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963208C>T (hg19) ; chr11:g.119092498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092498C>T , CM000673.2:g.119092498C>T	GRCh38
NC_000011.9:g.118963208C>T , CM000673.1:g.118963208C>T	GRCh37
NC_000011.8:g.118468418C>T	NCBI36
NG_008093.1:g.12622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.581C>T	ENSP00000509288.1:p.Ala194Val
ENST00000691144.1:n.2727C>T
ENST00000691249.1:n.1570C>T
ENST00000442944.7:c.728C>T	ENSP00000392041.3:p.Ala243Val
ENST00000640813.1:c.556C>T	ENSP00000491061.1:p.Leu186=
ENST00000648026.1:c.640C>T	ENSP00000498044.1:p.Leu214=
ENST00000648374.1:c.695C>T	ENSP00000497255.1:p.Ala232Val
ENST00000649823.1:n.1203C>T
ENST00000650101.1:c.677C>T	ENSP00000496970.1:p.Ala226Val
ENST00000650307.1:n.1572C>T
ENST00000652429.1:c.746C>T MANE Select	ENSP00000498786.1:p.Ala249Val
ENST00000278715.7:c.746C>T	ENSP00000278715.3:p.Ala249Val
ENST00000392841.1:c.695C>T	ENSP00000376584.1:p.Ala232Val
ENST00000442944.6:c.695C>T	ENSP00000392041.2:p.Ala232Val
ENST00000537841.5:c.695C>T	ENSP00000444730.1:p.Ala232Val
ENST00000542044.5:n.1191C>T
ENST00000542729.5:c.601-260C>T	ENSP00000443058.1:n.601-260C>T
ENST00000543090.5:c.653C>T	ENSP00000445429.1:p.Ala218Val
ENST00000543543.5:n.1221C>T
ENST00000544182.1:n.961C>T
ENST00000544387.5:c.652-260C>T	ENSP00000438424.1:n.652-260C>T
ENST00000545621.5:c.*881C>T	ENSP00000444849.1:n.*881C>T
ENST00000546226.5:n.1274C>T
NM_000190.3:c.746C>T	NP_000181.2:p.Ala249Val
NM_001024382.1:c.695C>T	NP_001019553.1:p.Ala232Val
NM_001258208.1:c.652-260C>T	NP_001245137.1:n.652-260C>T
NM_001258209.1:c.601-260C>T	NP_001245138.1:n.601-260C>T
XM_005271531.1:c.695C>T	XP_005271588.1:p.Ala232Val
XM_005271532.1:c.695C>T	XP_005271589.1:p.Ala232Val
XM_005271533.2:c.692C>T	XP_005271590.1:p.Ala231Val
XM_011542796.1:c.581C>T	XP_011541098.1:p.Ala194Val
NM_000190.4:c.746C>T MANE Select	NP_000181.2:p.Ala249Val
NM_001024382.2:c.695C>T	NP_001019553.1:p.Ala232Val
XM_005271533.3:c.692C>T	XP_005271590.1:p.Ala231Val
XM_017017629.1:c.695C>T	XP_016873118.1:p.Ala232Val
XM_024448460.1:c.598-260C>T	XP_024304228.1:n.598-260C>T
NM_001258208.2:c.652-260C>T	NP_001245137.1:n.652-260C>T
NM_001258209.2:c.601-260C>T	NP_001245138.1:n.601-260C>T