Canonical Allele Identifier: CA248939

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 218709
• ClinVar RCV Id: RCV000202751 ; RCV001439371 ; RCV002517353
• dbSNP Id: rs150430170
• ExAC: 8:126085538 C / G
• gnomAD v2: 8-126085538-C-G
• gnomAD v3: 8-125073296-C-G
• gnomAD v4: 8-125073296-C-G
• MyVariant Identifiers: chr8:g.126085538C>G (hg19) ; chr8:g.125073296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125073296C>G , CM000670.2:g.125073296C>G	GRCh38
NC_000008.10:g.126085538C>G , CM000670.1:g.126085538C>G	GRCh37
NC_000008.9:g.126154720C>G	NCBI36
NG_012636.1:g.23524G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1007G>C MANE Select	ENSP00000318016.7:p.Arg336Thr
ENST00000318410.11:c.1007G>C	ENSP00000318016.7:p.Arg336Thr
ENST00000517845.5:c.563G>C	ENSP00000429676.1:p.Arg188Thr
NM_014846.3:c.1007G>C	NP_055661.3:p.Arg336Thr
XM_005251120.2:c.563G>C	XP_005251177.1:p.Arg188Thr
XM_011517409.1:c.1007G>C	XP_011515711.1:p.Arg336Thr
XM_011517410.1:c.1007G>C	XP_011515712.1:p.Arg336Thr
NM_001330609.1:c.563G>C	NP_001317538.1:p.Arg188Thr
XM_017014113.2:c.1007G>C	XP_016869602.1:p.Arg336Thr
NM_014846.4:c.1007G>C MANE Select	NP_055661.3:p.Arg336Thr
NM_001330609.2:c.563G>C	NP_001317538.1:p.Arg188Thr