Canonical Allele Identifier: CA374562979

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151297C>A (hg19) ; chr9:g.113389017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389017C>A , CM000671.2:g.113389017C>A	GRCh38
NC_000009.11:g.116151297C>A , CM000671.1:g.116151297C>A	GRCh37
NC_000009.10:g.115191118C>A	NCBI36
NG_008716.1:g.17322G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.891G>T MANE Select	ENSP00000386284.3:p.Lys297Asn
ENST00000409155.7:c.891G>T	ENSP00000386284.3:p.Lys297Asn
ENST00000482847.5:n.1164G>T
NM_000031.5:c.891G>T	NP_000022.3:p.Lys297Asn
XM_005251799.1:c.978G>T	XP_005251856.1:p.Lys326Asn
XM_011518363.1:c.1017G>T	XP_011516665.1:p.Lys339Asn
XM_011518364.1:c.918G>T	XP_011516666.1:p.Lys306Asn
NM_001003945.2:c.978G>T	NP_001003945.1:p.Lys326Asn
NM_001317745.1:c.867G>T	NP_001304674.1:p.Lys289Asn
XM_011518364.2:c.918G>T	XP_011516666.1:p.Lys306Asn
XM_024447449.1:c.978G>T	XP_024303217.1:p.Lys326Asn
NM_000031.6:c.891G>T MANE Select	NP_000022.3:p.Lys297Asn
NM_001003945.3:c.978G>T	NP_001003945.1:p.Lys326Asn
NM_001317745.2:c.867G>T	NP_001304674.1:p.Lys289Asn