Canonical Allele Identifier: CA374562970

Gene: ALAD

Linked Data

• gnomAD v4: 9-113389013-C-A
• MyVariant Identifiers: chr9:g.116151293C>A (hg19) ; chr9:g.113389013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389013C>A , CM000671.2:g.113389013C>A	GRCh38
NC_000009.11:g.116151293C>A , CM000671.1:g.116151293C>A	GRCh37
NC_000009.10:g.115191114C>A	NCBI36
NG_008716.1:g.17326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.895G>T MANE Select	ENSP00000386284.3:p.Ala299Ser
ENST00000409155.7:c.895G>T	ENSP00000386284.3:p.Ala299Ser
ENST00000482847.5:n.1168G>T
NM_000031.5:c.895G>T	NP_000022.3:p.Ala299Ser
XM_005251799.1:c.982G>T	XP_005251856.1:p.Ala328Ser
XM_011518363.1:c.1021G>T	XP_011516665.1:p.Ala341Ser
XM_011518364.1:c.922G>T	XP_011516666.1:p.Ala308Ser
NM_001003945.2:c.982G>T	NP_001003945.1:p.Ala328Ser
NM_001317745.1:c.871G>T	NP_001304674.1:p.Ala291Ser
XM_011518364.2:c.922G>T	XP_011516666.1:p.Ala308Ser
XM_024447449.1:c.982G>T	XP_024303217.1:p.Ala328Ser
NM_000031.6:c.895G>T MANE Select	NP_000022.3:p.Ala299Ser
NM_001003945.3:c.982G>T	NP_001003945.1:p.Ala328Ser
NM_001317745.2:c.871G>T	NP_001304674.1:p.Ala291Ser