Canonical Allele Identifier: CA2691296087

Gene: ALAD

Linked Data

• gnomAD v4: 9-113388933-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388933G>C , CM000671.2:g.113388933G>C	GRCh38
NC_000009.11:g.116151213G>C , CM000671.1:g.116151213G>C	GRCh37
NC_000009.10:g.115191034G>C	NCBI36
NG_008716.1:g.17406C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.931+44C>G MANE Select	ENSP00000386284.3:n.931+44C>G
ENST00000409155.7:c.931+44C>G	ENSP00000386284.3:n.931+44C>G
ENST00000482847.5:n.1204+44C>G
NM_000031.5:c.931+44C>G	NP_000022.3:n.931+44C>G
XM_005251799.1:c.1018+44C>G	XP_005251856.1:n.1018+44C>G
XM_011518363.1:c.1057+44C>G	XP_011516665.1:n.1057+44C>G
XM_011518364.1:c.958+44C>G	XP_011516666.1:n.958+44C>G
NM_001003945.2:c.1018+44C>G	NP_001003945.1:n.1018+44C>G
NM_001317745.1:c.907+44C>G	NP_001304674.1:n.907+44C>G
XM_011518364.2:c.958+44C>G	XP_011516666.1:n.958+44C>G
XM_024447449.1:c.1018+44C>G	XP_024303217.1:n.1018+44C>G
NM_000031.6:c.931+44C>G MANE Select	NP_000022.3:n.931+44C>G
NM_001003945.3:c.1018+44C>G	NP_001003945.1:n.1018+44C>G
NM_001317745.2:c.907+44C>G	NP_001304674.1:n.907+44C>G