Canonical Allele Identifier: CA382899745

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093213-C-T
• MyVariant Identifiers: chr11:g.118963923C>T (hg19) ; chr11:g.119093213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093213C>T , CM000673.2:g.119093213C>T	GRCh38
NC_000011.9:g.118963923C>T , CM000673.1:g.118963923C>T	GRCh37
NC_000011.8:g.118469133C>T	NCBI36
NG_008093.1:g.13337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.851C>T	ENSP00000509288.1:p.Ala284Val
ENST00000691144.1:n.3231C>T
ENST00000691249.1:n.1840C>T
ENST00000442944.7:c.998C>T	ENSP00000392041.3:p.Ala333Val
ENST00000640813.1:c.*253C>T	ENSP00000491061.1:n.*253C>T
ENST00000648026.1:c.910C>T	ENSP00000498044.1:n.910C>T
ENST00000648374.1:c.965C>T	ENSP00000497255.1:p.Ala322Val
ENST00000650101.1:c.947C>T	ENSP00000496970.1:p.Ala316Val
ENST00000650307.1:n.1842C>T
ENST00000652429.1:c.1016C>T MANE Select	ENSP00000498786.1:p.Ala339Val
ENST00000278715.7:c.1016C>T	ENSP00000278715.3:p.Ala339Val
ENST00000392841.1:c.965C>T	ENSP00000376584.1:p.Ala322Val
ENST00000442944.6:c.965C>T	ENSP00000392041.2:p.Ala322Val
ENST00000537841.5:c.965C>T	ENSP00000444730.1:p.Ala322Val
ENST00000539045.1:n.515C>T
ENST00000542044.5:n.1461C>T
ENST00000542729.5:c.845C>T	ENSP00000443058.1:p.Ala282Val
ENST00000543090.5:c.923C>T	ENSP00000445429.1:p.Ala308Val
ENST00000543543.5:n.1491C>T
ENST00000544182.1:n.1465C>T
ENST00000544387.5:c.896C>T	ENSP00000438424.1:p.Ala299Val
ENST00000546226.5:n.1778C>T
NM_000190.3:c.1016C>T	NP_000181.2:p.Ala339Val
NM_001024382.1:c.965C>T	NP_001019553.1:p.Ala322Val
NM_001258208.1:c.896C>T	NP_001245137.1:p.Ala299Val
NM_001258209.1:c.845C>T	NP_001245138.1:p.Ala282Val
XM_005271531.1:c.965C>T	XP_005271588.1:p.Ala322Val
XM_005271532.1:c.965C>T	XP_005271589.1:p.Ala322Val
XM_005271533.2:c.962C>T	XP_005271590.1:p.Ala321Val
XM_011542796.1:c.851C>T	XP_011541098.1:p.Ala284Val
NM_000190.4:c.1016C>T MANE Select	NP_000181.2:p.Ala339Val
NM_001024382.2:c.965C>T	NP_001019553.1:p.Ala322Val
XM_005271533.3:c.962C>T	XP_005271590.1:p.Ala321Val
XM_017017629.1:c.965C>T	XP_016873118.1:p.Ala322Val
XM_024448460.1:c.842C>T	XP_024304228.1:p.Ala281Val
NM_001258208.2:c.896C>T	NP_001245137.1:p.Ala299Val
NM_001258209.2:c.845C>T	NP_001245138.1:p.Ala282Val