Canonical Allele Identifier: CA374565066

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153844C>G (hg19) ; chr9:g.113391564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391564C>G , CM000671.2:g.113391564C>G	GRCh38
NC_000009.11:g.116153844C>G , CM000671.1:g.116153844C>G	GRCh37
NC_000009.10:g.115193665C>G	NCBI36
NG_008716.1:g.14775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.224G>C MANE Select	ENSP00000386284.3:p.Cys75Ser
ENST00000409155.7:c.224G>C	ENSP00000386284.3:p.Cys75Ser
ENST00000448137.5:c.251G>C	ENSP00000392748.1:p.Cys84Ser
ENST00000464749.5:n.258-631G>C
ENST00000468504.5:n.346G>C
ENST00000482001.1:n.497G>C
ENST00000482847.5:n.497G>C
NM_000031.5:c.224G>C	NP_000022.3:p.Cys75Ser
XM_005251799.1:c.311G>C	XP_005251856.1:p.Cys104Ser
XM_011518363.1:c.350G>C	XP_011516665.1:p.Cys117Ser
XM_011518364.1:c.251G>C	XP_011516666.1:p.Cys84Ser
NM_001003945.2:c.311G>C	NP_001003945.1:p.Cys104Ser
NM_001317745.1:c.200G>C	NP_001304674.1:p.Cys67Ser
XM_011518364.2:c.251G>C	XP_011516666.1:p.Cys84Ser
XM_024447449.1:c.311G>C	XP_024303217.1:p.Cys104Ser
XR_002956764.1:n.724G>C
NM_000031.6:c.224G>C MANE Select	NP_000022.3:p.Cys75Ser
NM_001003945.3:c.311G>C	NP_001003945.1:p.Cys104Ser
NM_001317745.2:c.200G>C	NP_001304674.1:p.Cys67Ser