Canonical Allele Identifier: CA372187334

Gene: WASHC5 WASHC5-AS1

Linked Data

• ClinVar Variation Id: 862403
• ClinVar RCV Id: RCV001069120
• dbSNP Id: rs1815970512
• MyVariant Identifiers: chr8:g.126056128T>G (hg19) ; chr8:g.125043886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125043886T>G , CM000670.2:g.125043886T>G	GRCh38
NC_000008.10:g.126056128T>G , CM000670.1:g.126056128T>G	GRCh37
NC_000008.9:g.126125310T>G	NCBI36
NG_012636.1:g.52934A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2789A>C (WASHC5) MANE Select	ENSP00000318016.7:p.Tyr930Ser
ENST00000318410.11:c.2789A>C (WASHC5)	ENSP00000318016.7:p.Tyr930Ser
ENST00000517845.5:c.2345A>C (WASHC5)	ENSP00000429676.1:p.Tyr782Ser
NM_014846.3:c.2789A>C (WASHC5)	NP_055661.3:p.Tyr930Ser
XM_005251120.2:c.2345A>C (WASHC5)	XP_005251177.1:p.Tyr782Ser
XM_011517409.1:c.2789A>C (WASHC5)	XP_011515711.1:p.Tyr930Ser
XM_011517410.1:c.2789A>C (WASHC5)	XP_011515712.1:p.Tyr930Ser
NM_001330609.1:c.2345A>C (WASHC5)	NP_001317538.1:p.Tyr782Ser
XM_017014113.2:c.2789A>C (WASHC5)	XP_016869602.1:p.Tyr930Ser
NM_014846.4:c.2789A>C (WASHC5) MANE Select	NP_055661.3:p.Tyr930Ser
NM_001330609.2:c.2345A>C (WASHC5)	NP_001317538.1:p.Tyr782Ser
NR_170219.1:n.97-613T>G (WASHC5-AS1)