Canonical Allele Identifier: CA339874

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 1163
• ClinVar RCV Id: RCV000001222
• dbSNP Id: rs80338865
• MyVariant Identifiers: chr8:g.126073434T>C (hg19) ; chr8:g.125061192T>C (hg38)
• PubMed: PMID:17160902 ; PMID:20301727 ; PMID:20833645

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125061192T>C , CM000670.2:g.125061192T>C	GRCh38
NC_000008.10:g.126073434T>C , CM000670.1:g.126073434T>C	GRCh37
NC_000008.9:g.126142616T>C	NCBI36
NG_012636.1:g.35628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1411A>G MANE Select	ENSP00000318016.7:p.Asn471Asp
ENST00000318410.11:c.1411A>G	ENSP00000318016.7:p.Asn471Asp
ENST00000517845.5:c.967A>G	ENSP00000429676.1:p.Asn323Asp
NM_014846.3:c.1411A>G	NP_055661.3:p.Asn471Asp
XM_005251120.2:c.967A>G	XP_005251177.1:p.Asn323Asp
XM_011517409.1:c.1411A>G	XP_011515711.1:p.Asn471Asp
XM_011517410.1:c.1411A>G	XP_011515712.1:p.Asn471Asp
NM_001330609.1:c.967A>G	NP_001317538.1:p.Asn323Asp
XM_017014113.2:c.1411A>G	XP_016869602.1:p.Asn471Asp
NM_014846.4:c.1411A>G MANE Select	NP_055661.3:p.Asn471Asp
NM_001330609.2:c.967A>G	NP_001317538.1:p.Asn323Asp