Canonical Allele Identifier: CA198545413

Gene: ALAD

Linked Data

• dbSNP Id: rs1016116236
• gnomAD v4: 9-113388925-G-T
• MyVariant Identifiers: chr9:g.116151205G>T (hg19) ; chr9:g.113388925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388925G>T , CM000671.2:g.113388925G>T	GRCh38
NC_000009.11:g.116151205G>T , CM000671.1:g.116151205G>T	GRCh37
NC_000009.10:g.115191026G>T	NCBI36
NG_008716.1:g.17414C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.931+52C>A MANE Select	ENSP00000386284.3:n.931+52C>A
ENST00000409155.7:c.931+52C>A	ENSP00000386284.3:n.931+52C>A
ENST00000482847.5:n.1204+52C>A
NM_000031.5:c.931+52C>A	NP_000022.3:n.931+52C>A
XM_005251799.1:c.1018+52C>A	XP_005251856.1:n.1018+52C>A
XM_011518363.1:c.1057+52C>A	XP_011516665.1:n.1057+52C>A
XM_011518364.1:c.958+52C>A	XP_011516666.1:n.958+52C>A
NM_001003945.2:c.1018+52C>A	NP_001003945.1:n.1018+52C>A
NM_001317745.1:c.907+52C>A	NP_001304674.1:n.907+52C>A
XM_011518364.2:c.958+52C>A	XP_011516666.1:n.958+52C>A
XM_024447449.1:c.1018+52C>A	XP_024303217.1:n.1018+52C>A
NM_000031.6:c.931+52C>A MANE Select	NP_000022.3:n.931+52C>A
NM_001003945.3:c.1018+52C>A	NP_001003945.1:n.1018+52C>A
NM_001317745.2:c.907+52C>A	NP_001304674.1:n.907+52C>A