Canonical Allele Identifier: CA198545367

Gene: ALAD

Linked Data

• dbSNP Id: rs531311653
• gnomAD v2: 9-116151179-A-G
• gnomAD v3: 9-113388899-A-G
• gnomAD v4: 9-113388899-A-G
• MyVariant Identifiers: chr9:g.116151179A>G (hg19) ; chr9:g.113388899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388899A>G , CM000671.2:g.113388899A>G	GRCh38
NC_000009.11:g.116151179A>G , CM000671.1:g.116151179A>G	GRCh37
NC_000009.10:g.115191000A>G	NCBI36
NG_008716.1:g.17440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.931+78T>C MANE Select	ENSP00000386284.3:n.931+78T>C
ENST00000409155.7:c.931+78T>C	ENSP00000386284.3:n.931+78T>C
ENST00000482847.5:n.1204+78T>C
NM_000031.5:c.931+78T>C	NP_000022.3:n.931+78T>C
XM_005251799.1:c.1018+78T>C	XP_005251856.1:n.1018+78T>C
XM_011518363.1:c.1057+78T>C	XP_011516665.1:n.1057+78T>C
XM_011518364.1:c.958+78T>C	XP_011516666.1:n.958+78T>C
NM_001003945.2:c.1018+78T>C	NP_001003945.1:n.1018+78T>C
NM_001317745.1:c.907+78T>C	NP_001304674.1:n.907+78T>C
XM_011518364.2:c.958+78T>C	XP_011516666.1:n.958+78T>C
XM_024447449.1:c.1018+78T>C	XP_024303217.1:n.1018+78T>C
NM_000031.6:c.931+78T>C MANE Select	NP_000022.3:n.931+78T>C
NM_001003945.3:c.1018+78T>C	NP_001003945.1:n.1018+78T>C
NM_001317745.2:c.907+78T>C	NP_001304674.1:n.907+78T>C