Canonical Allele Identifier: CA382899726

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963918C>A (hg19) ; chr11:g.119093208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093208C>A , CM000673.2:g.119093208C>A	GRCh38
NC_000011.9:g.118963918C>A , CM000673.1:g.118963918C>A	GRCh37
NC_000011.8:g.118469128C>A	NCBI36
NG_008093.1:g.13332C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.846C>A	ENSP00000509288.1:p.Ser282Arg
ENST00000691144.1:n.3226C>A
ENST00000691249.1:n.1835C>A
ENST00000442944.7:c.993C>A	ENSP00000392041.3:p.Ser331Arg
ENST00000640813.1:c.*248C>A	ENSP00000491061.1:n.*248C>A
ENST00000648026.1:c.905C>A	ENSP00000498044.1:n.905C>A
ENST00000648374.1:c.960C>A	ENSP00000497255.1:p.Ser320Arg
ENST00000650101.1:c.942C>A	ENSP00000496970.1:p.Ser314Arg
ENST00000650307.1:n.1837C>A
ENST00000652429.1:c.1011C>A MANE Select	ENSP00000498786.1:p.Ser337Arg
ENST00000278715.7:c.1011C>A	ENSP00000278715.3:p.Ser337Arg
ENST00000392841.1:c.960C>A	ENSP00000376584.1:p.Ser320Arg
ENST00000442944.6:c.960C>A	ENSP00000392041.2:p.Ser320Arg
ENST00000537841.5:c.960C>A	ENSP00000444730.1:p.Ser320Arg
ENST00000539045.1:n.510C>A
ENST00000542044.5:n.1456C>A
ENST00000542729.5:c.840C>A	ENSP00000443058.1:p.Ser280Arg
ENST00000543090.5:c.918C>A	ENSP00000445429.1:p.Ser306Arg
ENST00000543543.5:n.1486C>A
ENST00000544182.1:n.1460C>A
ENST00000544387.5:c.891C>A	ENSP00000438424.1:p.Ser297Arg
ENST00000546226.5:n.1773C>A
NM_000190.3:c.1011C>A	NP_000181.2:p.Ser337Arg
NM_001024382.1:c.960C>A	NP_001019553.1:p.Ser320Arg
NM_001258208.1:c.891C>A	NP_001245137.1:p.Ser297Arg
NM_001258209.1:c.840C>A	NP_001245138.1:p.Ser280Arg
XM_005271531.1:c.960C>A	XP_005271588.1:p.Ser320Arg
XM_005271532.1:c.960C>A	XP_005271589.1:p.Ser320Arg
XM_005271533.2:c.957C>A	XP_005271590.1:p.Ser319Arg
XM_011542796.1:c.846C>A	XP_011541098.1:p.Ser282Arg
NM_000190.4:c.1011C>A MANE Select	NP_000181.2:p.Ser337Arg
NM_001024382.2:c.960C>A	NP_001019553.1:p.Ser320Arg
XM_005271533.3:c.957C>A	XP_005271590.1:p.Ser319Arg
XM_017017629.1:c.960C>A	XP_016873118.1:p.Ser320Arg
XM_024448460.1:c.837C>A	XP_024304228.1:p.Ser279Arg
NM_001258208.2:c.891C>A	NP_001245137.1:p.Ser297Arg
NM_001258209.2:c.840C>A	NP_001245138.1:p.Ser280Arg