Canonical Allele Identifier: CA374562983

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151298T>G (hg19) ; chr9:g.113389018T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389018T>G , CM000671.2:g.113389018T>G	GRCh38
NC_000009.11:g.116151298T>G , CM000671.1:g.116151298T>G	GRCh37
NC_000009.10:g.115191119T>G	NCBI36
NG_008716.1:g.17321A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.890A>C MANE Select	ENSP00000386284.3:p.Lys297Thr
ENST00000409155.7:c.890A>C	ENSP00000386284.3:p.Lys297Thr
ENST00000482847.5:n.1163A>C
NM_000031.5:c.890A>C	NP_000022.3:p.Lys297Thr
XM_005251799.1:c.977A>C	XP_005251856.1:p.Lys326Thr
XM_011518363.1:c.1016A>C	XP_011516665.1:p.Lys339Thr
XM_011518364.1:c.917A>C	XP_011516666.1:p.Lys306Thr
NM_001003945.2:c.977A>C	NP_001003945.1:p.Lys326Thr
NM_001317745.1:c.866A>C	NP_001304674.1:p.Lys289Thr
XM_011518364.2:c.917A>C	XP_011516666.1:p.Lys306Thr
XM_024447449.1:c.977A>C	XP_024303217.1:p.Lys326Thr
NM_000031.6:c.890A>C MANE Select	NP_000022.3:p.Lys297Thr
NM_001003945.3:c.977A>C	NP_001003945.1:p.Lys326Thr
NM_001317745.2:c.866A>C	NP_001304674.1:p.Lys289Thr