Canonical Allele Identifier: CA466756313

Gene: ALAD

Linked Data

• ClinVar Variation Id: 759094
• ClinVar RCV Id: RCV000936873
• dbSNP Id: rs1305619721
• gnomAD v2: 9-116151375-G-C
• gnomAD v3: 9-113389095-G-C
• gnomAD v4: 9-113389095-G-C
• MyVariant Identifiers: chr9:g.116151375G>C (hg19) ; chr9:g.113389095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389095G>C , CM000671.2:g.113389095G>C	GRCh38
NC_000009.11:g.116151375G>C , CM000671.1:g.116151375G>C	GRCh37
NC_000009.10:g.115191196G>C	NCBI36
NG_008716.1:g.17244C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.813C>G MANE Select	ENSP00000386284.3:p.Leu271=
ENST00000409155.7:c.813C>G	ENSP00000386284.3:p.Leu271=
ENST00000482847.5:n.1086C>G
NM_000031.5:c.813C>G	NP_000022.3:p.Leu271=
XM_005251799.1:c.900C>G	XP_005251856.1:p.Leu300=
XM_011518363.1:c.939C>G	XP_011516665.1:p.Leu313=
XM_011518364.1:c.840C>G	XP_011516666.1:p.Leu280=
NM_001003945.2:c.900C>G	NP_001003945.1:p.Leu300=
NM_001317745.1:c.789C>G	NP_001304674.1:p.Leu263=
XM_011518364.2:c.840C>G	XP_011516666.1:p.Leu280=
XM_024447449.1:c.900C>G	XP_024303217.1:p.Leu300=
NM_000031.6:c.813C>G MANE Select	NP_000022.3:p.Leu271=
NM_001003945.3:c.900C>G	NP_001003945.1:p.Leu300=
NM_001317745.2:c.789C>G	NP_001304674.1:p.Leu263=