Canonical Allele Identifier: CA374562932

Gene: ALAD

Linked Data

• dbSNP Id: rs993268256
• gnomAD v4: 9-113388994-G-C
• MyVariant Identifiers: chr9:g.116151274G>C (hg19) ; chr9:g.113388994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388994G>C , CM000671.2:g.113388994G>C	GRCh38
NC_000009.11:g.116151274G>C , CM000671.1:g.116151274G>C	GRCh37
NC_000009.10:g.115191095G>C	NCBI36
NG_008716.1:g.17345C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.914C>G MANE Select	ENSP00000386284.3:p.Thr305Ser
ENST00000409155.7:c.914C>G	ENSP00000386284.3:p.Thr305Ser
ENST00000482847.5:n.1187C>G
NM_000031.5:c.914C>G	NP_000022.3:p.Thr305Ser
XM_005251799.1:c.1001C>G	XP_005251856.1:p.Thr334Ser
XM_011518363.1:c.1040C>G	XP_011516665.1:p.Thr347Ser
XM_011518364.1:c.941C>G	XP_011516666.1:p.Thr314Ser
NM_001003945.2:c.1001C>G	NP_001003945.1:p.Thr334Ser
NM_001317745.1:c.890C>G	NP_001304674.1:p.Thr297Ser
XM_011518364.2:c.941C>G	XP_011516666.1:p.Thr314Ser
XM_024447449.1:c.1001C>G	XP_024303217.1:p.Thr334Ser
NM_000031.6:c.914C>G MANE Select	NP_000022.3:p.Thr305Ser
NM_001003945.3:c.1001C>G	NP_001003945.1:p.Thr334Ser
NM_001317745.2:c.890C>G	NP_001304674.1:p.Thr297Ser