Canonical Allele Identifier: CA251713

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 1162
• ClinVar RCV Id: RCV000001221 ; RCV001851527
• dbSNP Id: rs80338866
• MyVariant Identifiers: chr8:g.126069816C>G (hg19) ; chr8:g.125057574C>G (hg38)
• PubMed: PMID:17160902 ; PMID:24759409

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057574C>G , CM000670.2:g.125057574C>G	GRCh38
NC_000008.10:g.126069816C>G , CM000670.1:g.126069816C>G	GRCh37
NC_000008.9:g.126138998C>G	NCBI36
NG_012636.1:g.39246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1857G>C MANE Select	ENSP00000318016.7:p.Leu619Phe
ENST00000318410.11:c.1857G>C	ENSP00000318016.7:p.Leu619Phe
ENST00000517845.5:c.1413G>C	ENSP00000429676.1:p.Leu471Phe
NM_014846.3:c.1857G>C	NP_055661.3:p.Leu619Phe
XM_005251120.2:c.1413G>C	XP_005251177.1:p.Leu471Phe
XM_011517409.1:c.1857G>C	XP_011515711.1:p.Leu619Phe
XM_011517410.1:c.1857G>C	XP_011515712.1:p.Leu619Phe
NM_001330609.1:c.1413G>C	NP_001317538.1:p.Leu471Phe
XM_017014113.2:c.1857G>C	XP_016869602.1:p.Leu619Phe
NM_014846.4:c.1857G>C MANE Select	NP_055661.3:p.Leu619Phe
NM_001330609.2:c.1413G>C	NP_001317538.1:p.Leu471Phe