Canonical Allele Identifier: CA4873277

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 463140
• ClinVar RCV Id: RCV000554231 ; RCV001163430
• dbSNP Id: rs200733182
• ExAC: 8:126044608 C / T
• gnomAD v2: 8-126044608-C-T
• gnomAD v3: 8-125032366-C-T
• gnomAD v4: 8-125032366-C-T
• MyVariant Identifiers: chr8:g.126044608C>T (hg19) ; chr8:g.126044608_126044609delinsTG (hg19) ; chr8:g.125032366C>T (hg38) ; chr8:g.125032366_125032367delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032366C>T , CM000670.2:g.125032366C>T	GRCh38
NC_000008.10:g.126044608C>T , CM000670.1:g.126044608C>T	GRCh37
NC_000008.9:g.126113790C>T	NCBI36
NG_012636.1:g.64454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3210G>A MANE Select	ENSP00000318016.7:p.Pro1070=
ENST00000318410.11:c.3210G>A	ENSP00000318016.7:p.Pro1070=
ENST00000517845.5:c.2766G>A	ENSP00000429676.1:p.Pro922=
ENST00000519042.2:n.349G>A
NM_014846.3:c.3210G>A	NP_055661.3:p.Pro1070=
XM_005251120.2:c.2766G>A	XP_005251177.1:p.Pro922=
NM_001330609.1:c.2766G>A	NP_001317538.1:p.Pro922=
XM_017014113.2:c.3210G>A	XP_016869602.1:p.Pro1070=
NM_014846.4:c.3210G>A MANE Select	NP_055661.3:p.Pro1070=
NM_001330609.2:c.2766G>A	NP_001317538.1:p.Pro922=