Canonical Allele Identifier: CA374565013

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153832A>C (hg19) ; chr9:g.113391552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391552A>C , CM000671.2:g.113391552A>C	GRCh38
NC_000009.11:g.116153832A>C , CM000671.1:g.116153832A>C	GRCh37
NC_000009.10:g.115193653A>C	NCBI36
NG_008716.1:g.14787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.236T>G MANE Select	ENSP00000386284.3:p.Phe79Cys
ENST00000409155.7:c.236T>G	ENSP00000386284.3:p.Phe79Cys
ENST00000448137.5:c.263T>G	ENSP00000392748.1:p.Phe88Cys
ENST00000464749.5:n.258-619T>G
ENST00000468504.5:n.358T>G
ENST00000482001.1:n.509T>G
ENST00000482847.5:n.509T>G
NM_000031.5:c.236T>G	NP_000022.3:p.Phe79Cys
XM_005251799.1:c.323T>G	XP_005251856.1:p.Phe108Cys
XM_011518363.1:c.362T>G	XP_011516665.1:p.Phe121Cys
XM_011518364.1:c.263T>G	XP_011516666.1:p.Phe88Cys
NM_001003945.2:c.323T>G	NP_001003945.1:p.Phe108Cys
NM_001317745.1:c.212T>G	NP_001304674.1:p.Phe71Cys
XM_011518364.2:c.263T>G	XP_011516666.1:p.Phe88Cys
XM_024447449.1:c.323T>G	XP_024303217.1:p.Phe108Cys
XR_002956764.1:n.736T>G
NM_000031.6:c.236T>G MANE Select	NP_000022.3:p.Phe79Cys
NM_001003945.3:c.323T>G	NP_001003945.1:p.Phe108Cys
NM_001317745.2:c.212T>G	NP_001304674.1:p.Phe71Cys