Canonical Allele Identifier: CA5196556

Gene: ALAD

Linked Data

• dbSNP Id: rs746243171
• ExAC: 9:116153763 C / A
• gnomAD v2: 9-116153763-C-A
• gnomAD v4: 9-113391483-C-A
• MyVariant Identifiers: chr9:g.116153763C>A (hg19) ; chr9:g.113391483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391483C>A , CM000671.2:g.113391483C>A	GRCh38
NC_000009.11:g.116153763C>A , CM000671.1:g.116153763C>A	GRCh37
NC_000009.10:g.115193584C>A	NCBI36
NG_008716.1:g.14856G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.261+44G>T MANE Select	ENSP00000386284.3:n.261+44G>T
ENST00000409155.7:c.261+44G>T	ENSP00000386284.3:n.261+44G>T
ENST00000448137.5:c.288+44G>T	ENSP00000392748.1:n.288+44G>T
ENST00000464749.5:n.258-550G>T
ENST00000468504.5:n.383+44G>T
ENST00000482001.1:n.534+44G>T
ENST00000482847.5:n.534+44G>T
NM_000031.5:c.261+44G>T	NP_000022.3:n.261+44G>T
XM_005251799.1:c.348+44G>T	XP_005251856.1:n.348+44G>T
XM_011518363.1:c.387+44G>T	XP_011516665.1:n.387+44G>T
XM_011518364.1:c.288+44G>T	XP_011516666.1:n.288+44G>T
NM_001003945.2:c.348+44G>T	NP_001003945.1:n.348+44G>T
NM_001317745.1:c.237+44G>T	NP_001304674.1:n.237+44G>T
XM_011518364.2:c.288+44G>T	XP_011516666.1:n.288+44G>T
XM_024447449.1:c.348+44G>T	XP_024303217.1:n.348+44G>T
XR_002956764.1:n.761+44G>T
NM_000031.6:c.261+44G>T MANE Select	NP_000022.3:n.261+44G>T
NM_001003945.3:c.348+44G>T	NP_001003945.1:n.348+44G>T
NM_001317745.2:c.237+44G>T	NP_001304674.1:n.237+44G>T