Canonical Allele Identifier: CA5196340

Gene: ALAD

Linked Data

• dbSNP Id: rs754592118
• ExAC: 9:116151374 G / C
• gnomAD v2: 9-116151374-G-C
• gnomAD v4: 9-113389094-G-C
• MyVariant Identifiers: chr9:g.116151374G>C (hg19) ; chr9:g.113389094G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389094G>C , CM000671.2:g.113389094G>C	GRCh38
NC_000009.11:g.116151374G>C , CM000671.1:g.116151374G>C	GRCh37
NC_000009.10:g.115191195G>C	NCBI36
NG_008716.1:g.17245C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.814C>G MANE Select	ENSP00000386284.3:p.Pro272Ala
ENST00000409155.7:c.814C>G	ENSP00000386284.3:p.Pro272Ala
ENST00000482847.5:n.1087C>G
NM_000031.5:c.814C>G	NP_000022.3:p.Pro272Ala
XM_005251799.1:c.901C>G	XP_005251856.1:p.Pro301Ala
XM_011518363.1:c.940C>G	XP_011516665.1:p.Pro314Ala
XM_011518364.1:c.841C>G	XP_011516666.1:p.Pro281Ala
NM_001003945.2:c.901C>G	NP_001003945.1:p.Pro301Ala
NM_001317745.1:c.790C>G	NP_001304674.1:p.Pro264Ala
XM_011518364.2:c.841C>G	XP_011516666.1:p.Pro281Ala
XM_024447449.1:c.901C>G	XP_024303217.1:p.Pro301Ala
NM_000031.6:c.814C>G MANE Select	NP_000022.3:p.Pro272Ala
NM_001003945.3:c.901C>G	NP_001003945.1:p.Pro301Ala
NM_001317745.2:c.790C>G	NP_001304674.1:p.Pro264Ala