Canonical Allele Identifier: CA198545409

Gene: ALAD

Linked Data

• dbSNP Id: rs1004777529
• gnomAD v3: 9-113388923-G-A
• gnomAD v4: 9-113388923-G-A
• MyVariant Identifiers: chr9:g.116151203G>A (hg19) ; chr9:g.113388923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388923G>A , CM000671.2:g.113388923G>A	GRCh38
NC_000009.11:g.116151203G>A , CM000671.1:g.116151203G>A	GRCh37
NC_000009.10:g.115191024G>A	NCBI36
NG_008716.1:g.17416C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.931+54C>T MANE Select	ENSP00000386284.3:n.931+54C>T
ENST00000409155.7:c.931+54C>T	ENSP00000386284.3:n.931+54C>T
ENST00000482847.5:n.1204+54C>T
NM_000031.5:c.931+54C>T	NP_000022.3:n.931+54C>T
XM_005251799.1:c.1018+54C>T	XP_005251856.1:n.1018+54C>T
XM_011518363.1:c.1057+54C>T	XP_011516665.1:n.1057+54C>T
XM_011518364.1:c.958+54C>T	XP_011516666.1:n.958+54C>T
NM_001003945.2:c.1018+54C>T	NP_001003945.1:n.1018+54C>T
NM_001317745.1:c.907+54C>T	NP_001304674.1:n.907+54C>T
XM_011518364.2:c.958+54C>T	XP_011516666.1:n.958+54C>T
XM_024447449.1:c.1018+54C>T	XP_024303217.1:n.1018+54C>T
NM_000031.6:c.931+54C>T MANE Select	NP_000022.3:n.931+54C>T
NM_001003945.3:c.1018+54C>T	NP_001003945.1:n.1018+54C>T
NM_001317745.2:c.907+54C>T	NP_001304674.1:n.907+54C>T