Canonical Allele Identifier: CA4873426

Gene: WASHC5 WASHC5-AS1

Linked Data

• ClinVar Variation Id: 390766
• ClinVar RCV Id: RCV000433147 ; RCV000868154 ; RCV003431009
• dbSNP Id: rs369339497
• ExAC: 8:126056088 C / T
• gnomAD v2: 8-126056088-C-T
• gnomAD v3: 8-125043846-C-T
• gnomAD v4: 8-125043846-C-T
• MyVariant Identifiers: chr8:g.126056088C>T (hg19) ; chr8:g.125043846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125043846C>T , CM000670.2:g.125043846C>T	GRCh38
NC_000008.10:g.126056088C>T , CM000670.1:g.126056088C>T	GRCh37
NC_000008.9:g.126125270C>T	NCBI36
NG_012636.1:g.52974G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318410.12:c.2829G>A (WASHC5) MANE Select	ENSP00000318016.7:p.Ala943=
ENST00000318410.11:c.2829G>A (WASHC5)	ENSP00000318016.7:p.Ala943=
ENST00000517845.5:c.2385G>A (WASHC5)	ENSP00000429676.1:p.Ala795=
NM_014846.3:c.2829G>A (WASHC5)	NP_055661.3:p.Ala943=
XM_005251120.2:c.2385G>A (WASHC5)	XP_005251177.1:p.Ala795=
XM_011517409.1:c.2829G>A (WASHC5)	XP_011515711.1:p.Ala943=
XM_011517410.1:c.2829G>A (WASHC5)	XP_011515712.1:p.Ala943=
NM_001330609.1:c.2385G>A (WASHC5)	NP_001317538.1:p.Ala795=
XM_017014113.2:c.2829G>A (WASHC5)	XP_016869602.1:p.Ala943=
NM_014846.4:c.2829G>A (WASHC5) MANE Select	NP_055661.3:p.Ala943=
NM_001330609.2:c.2385G>A (WASHC5)	NP_001317538.1:p.Ala795=
NR_170219.1:n.97-653C>T (WASHC5-AS1)