Canonical Allele Identifier: CA4873258

Gene: WASHC5

Linked Data

• dbSNP Id: rs756741731
• ExAC: 8:126044504 G / A
• gnomAD v2: 8-126044504-G-A
• gnomAD v4: 8-125032262-G-A
• MyVariant Identifiers: chr8:g.126044504G>A (hg19) ; chr8:g.125032262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032262G>A , CM000670.2:g.125032262G>A	GRCh38
NC_000008.10:g.126044504G>A , CM000670.1:g.126044504G>A	GRCh37
NC_000008.9:g.126113686G>A	NCBI36
NG_012636.1:g.64558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3314C>T MANE Select	ENSP00000318016.7:p.Ser1105Phe
ENST00000318410.11:c.3314C>T	ENSP00000318016.7:p.Ser1105Phe
ENST00000517845.5:c.2870C>T	ENSP00000429676.1:p.Ser957Phe
ENST00000519042.2:n.453C>T
NM_014846.3:c.3314C>T	NP_055661.3:p.Ser1105Phe
XM_005251120.2:c.2870C>T	XP_005251177.1:p.Ser957Phe
NM_001330609.1:c.2870C>T	NP_001317538.1:p.Ser957Phe
XM_017014113.2:c.3314C>T	XP_016869602.1:p.Ser1105Phe
NM_014846.4:c.3314C>T MANE Select	NP_055661.3:p.Ser1105Phe
NM_001330609.2:c.2870C>T	NP_001317538.1:p.Ser957Phe