Canonical Allele Identifier: CA10626945

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 361719
• ClinVar RCV Id: RCV000403572 ; RCV001487917
• dbSNP Id: rs886062652
• gnomAD v4: 8-125055636-A-C
• MyVariant Identifiers: chr8:g.126067878A>C (hg19) ; chr8:g.125055636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125055636A>C , CM000670.2:g.125055636A>C	GRCh38
NC_000008.10:g.126067878A>C , CM000670.1:g.126067878A>C	GRCh37
NC_000008.9:g.126137060A>C	NCBI36
NG_012636.1:g.41184T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2052T>G MANE Select	ENSP00000318016.7:p.Thr684=
ENST00000318410.11:c.2052T>G	ENSP00000318016.7:p.Thr684=
ENST00000517845.5:c.1608T>G	ENSP00000429676.1:p.Thr536=
NM_014846.3:c.2052T>G	NP_055661.3:p.Thr684=
XM_005251120.2:c.1608T>G	XP_005251177.1:p.Thr536=
XM_011517409.1:c.2052T>G	XP_011515711.1:p.Thr684=
XM_011517410.1:c.2052T>G	XP_011515712.1:p.Thr684=
NM_001330609.1:c.1608T>G	NP_001317538.1:p.Thr536=
XM_017014113.2:c.2052T>G	XP_016869602.1:p.Thr684=
NM_014846.4:c.2052T>G MANE Select	NP_055661.3:p.Thr684=
NM_001330609.2:c.1608T>G	NP_001317538.1:p.Thr536=