Canonical Allele Identifier: CA374562941

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151278T>A (hg19) ; chr9:g.113388998T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388998T>A , CM000671.2:g.113388998T>A	GRCh38
NC_000009.11:g.116151278T>A , CM000671.1:g.116151278T>A	GRCh37
NC_000009.10:g.115191099T>A	NCBI36
NG_008716.1:g.17341A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.910A>T MANE Select	ENSP00000386284.3:p.Met304Leu
ENST00000409155.7:c.910A>T	ENSP00000386284.3:p.Met304Leu
ENST00000482847.5:n.1183A>T
NM_000031.5:c.910A>T	NP_000022.3:p.Met304Leu
XM_005251799.1:c.997A>T	XP_005251856.1:p.Met333Leu
XM_011518363.1:c.1036A>T	XP_011516665.1:p.Met346Leu
XM_011518364.1:c.937A>T	XP_011516666.1:p.Met313Leu
NM_001003945.2:c.997A>T	NP_001003945.1:p.Met333Leu
NM_001317745.1:c.886A>T	NP_001304674.1:p.Met296Leu
XM_011518364.2:c.937A>T	XP_011516666.1:p.Met313Leu
XM_024447449.1:c.997A>T	XP_024303217.1:p.Met333Leu
NM_000031.6:c.910A>T MANE Select	NP_000022.3:p.Met304Leu
NM_001003945.3:c.997A>T	NP_001003945.1:p.Met333Leu
NM_001317745.2:c.886A>T	NP_001304674.1:p.Met296Leu