Canonical Allele Identifier: CA372187294

Gene: WASHC5 WASHC5-AS1

Linked Data

• ClinVar Variation Id: 2658802
• ClinVar RCV Id: RCV003440631 ; RCV003778446
• dbSNP Id: rs1296605223
• gnomAD v2: 8-126056123-A-T
• gnomAD v4: 8-125043881-A-T
• MyVariant Identifiers: chr8:g.126056123A>T (hg19) ; chr8:g.125043881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125043881A>T , CM000670.2:g.125043881A>T	GRCh38
NC_000008.10:g.126056123A>T , CM000670.1:g.126056123A>T	GRCh37
NC_000008.9:g.126125305A>T	NCBI36
NG_012636.1:g.52939T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2794T>A (WASHC5) MANE Select	ENSP00000318016.7:p.Ser932Thr
ENST00000318410.11:c.2794T>A (WASHC5)	ENSP00000318016.7:p.Ser932Thr
ENST00000517845.5:c.2350T>A (WASHC5)	ENSP00000429676.1:p.Ser784Thr
NM_014846.3:c.2794T>A (WASHC5)	NP_055661.3:p.Ser932Thr
XM_005251120.2:c.2350T>A (WASHC5)	XP_005251177.1:p.Ser784Thr
XM_011517409.1:c.2794T>A (WASHC5)	XP_011515711.1:p.Ser932Thr
XM_011517410.1:c.2794T>A (WASHC5)	XP_011515712.1:p.Ser932Thr
NM_001330609.1:c.2350T>A (WASHC5)	NP_001317538.1:p.Ser784Thr
XM_017014113.2:c.2794T>A (WASHC5)	XP_016869602.1:p.Ser932Thr
NM_014846.4:c.2794T>A (WASHC5) MANE Select	NP_055661.3:p.Ser932Thr
NM_001330609.2:c.2350T>A (WASHC5)	NP_001317538.1:p.Ser784Thr
NR_170219.1:n.97-618A>T (WASHC5-AS1)