Canonical Allele Identifier: CA374564947

Gene: ALAD

Linked Data

• gnomAD v4: 9-113391535-C-G
• MyVariant Identifiers: chr9:g.116153815C>G (hg19) ; chr9:g.113391535C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391535C>G , CM000671.2:g.113391535C>G	GRCh38
NC_000009.11:g.116153815C>G , CM000671.1:g.116153815C>G	GRCh37
NC_000009.10:g.115193636C>G	NCBI36
NG_008716.1:g.14804G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.253G>C MANE Select	ENSP00000386284.3:p.Val85Leu
ENST00000409155.7:c.253G>C	ENSP00000386284.3:p.Val85Leu
ENST00000448137.5:c.280G>C	ENSP00000392748.1:p.Val94Leu
ENST00000464749.5:n.258-602G>C
ENST00000468504.5:n.375G>C
ENST00000482001.1:n.526G>C
ENST00000482847.5:n.526G>C
NM_000031.5:c.253G>C	NP_000022.3:p.Val85Leu
XM_005251799.1:c.340G>C	XP_005251856.1:p.Val114Leu
XM_011518363.1:c.379G>C	XP_011516665.1:p.Val127Leu
XM_011518364.1:c.280G>C	XP_011516666.1:p.Val94Leu
NM_001003945.2:c.340G>C	NP_001003945.1:p.Val114Leu
NM_001317745.1:c.229G>C	NP_001304674.1:p.Val77Leu
XM_011518364.2:c.280G>C	XP_011516666.1:p.Val94Leu
XM_024447449.1:c.340G>C	XP_024303217.1:p.Val114Leu
XR_002956764.1:n.753G>C
NM_000031.6:c.253G>C MANE Select	NP_000022.3:p.Val85Leu
NM_001003945.3:c.340G>C	NP_001003945.1:p.Val114Leu
NM_001317745.2:c.229G>C	NP_001304674.1:p.Val77Leu