Canonical Allele Identifier: CA4873512

Gene: WASHC5

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125047222C>T , CM000670.2:g.125047222C>T	GRCh38
NC_000008.10:g.126059464C>T , CM000670.1:g.126059464C>T	GRCh37
NC_000008.9:g.126128646C>T	NCBI36
NG_012636.1:g.49598G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014846.4:c.2489G>A MANE Select	NP_055661.3:p.Arg830Gln
ENST00000318410.12:c.2489G>A MANE Select	ENSP00000318016.7:p.Arg830Gln
NM_001330609.1:c.2045G>A	NP_001317538.1:p.Arg682Gln
NM_001330609.2:c.2045G>A	NP_001317538.1:p.Arg682Gln
NM_014846.3:c.2489G>A	NP_055661.3:p.Arg830Gln
ENST00000318410.11:c.2489G>A	ENSP00000318016.7:p.Arg830Gln
ENST00000517845.5:c.2045G>A	ENSP00000429676.1:p.Arg682Gln
ENST00000530856.1:n.136G>A
XM_005251120.2:c.2045G>A	XP_005251177.1:p.Arg682Gln
XM_011517409.1:c.2489G>A	XP_011515711.1:p.Arg830Gln
XM_011517410.1:c.2489G>A	XP_011515712.1:p.Arg830Gln
XM_017014113.2:c.2489G>A	XP_016869602.1:p.Arg830Gln