Canonical Allele Identifier: CA4873419

Gene: WASHC5 WASHC5-AS1

Linked Data

• ClinVar Variation Id: 361715
• ClinVar RCV Id: RCV000286638 ; RCV002523629 ; RCV003950284
• dbSNP Id: rs770743674
• ExAC: 8:126056063 A / G
• gnomAD v2: 8-126056063-A-G
• gnomAD v3: 8-125043821-A-G
• gnomAD v4: 8-125043821-A-G
• MyVariant Identifiers: chr8:g.126056063A>G (hg19) ; chr8:g.125043821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125043821A>G , CM000670.2:g.125043821A>G	GRCh38
NC_000008.10:g.126056063A>G , CM000670.1:g.126056063A>G	GRCh37
NC_000008.9:g.126125245A>G	NCBI36
NG_012636.1:g.52999T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2850+4T>C (WASHC5) MANE Select	ENSP00000318016.7:n.2850+4T>C
ENST00000318410.11:c.2850+4T>C (WASHC5)	ENSP00000318016.7:n.2850+4T>C
ENST00000517845.5:c.2406+4T>C (WASHC5)	ENSP00000429676.1:n.2406+4T>C
NM_014846.3:c.2850+4T>C (WASHC5)	NP_055661.3:n.2850+4T>C
XM_005251120.2:c.2406+4T>C (WASHC5)	XP_005251177.1:n.2406+4T>C
XM_011517409.1:c.2850+4T>C (WASHC5)	XP_011515711.1:n.2850+4T>C
XM_011517410.1:c.2850+4T>C (WASHC5)	XP_011515712.1:n.2850+4T>C
NM_001330609.1:c.2406+4T>C (WASHC5)	NP_001317538.1:n.2406+4T>C
XM_017014113.2:c.2850+4T>C (WASHC5)	XP_016869602.1:n.2850+4T>C
NM_014846.4:c.2850+4T>C (WASHC5) MANE Select	NP_055661.3:n.2850+4T>C
NM_001330609.2:c.2406+4T>C (WASHC5)	NP_001317538.1:n.2406+4T>C
NR_170219.1:n.97-678A>G (WASHC5-AS1)