Canonical Allele Identifier: CA185322520

Gene: WASHC5

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125076472C>T , CM000670.2:g.125076472C>T	GRCh38
NC_000008.10:g.126088714C>T , CM000670.1:g.126088714C>T	GRCh37
NC_000008.9:g.126157896C>T	NCBI36
NG_012636.1:g.20348G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014846.4:c.740G>A MANE Select	NP_055661.3:p.Arg247His
ENST00000318410.12:c.740G>A MANE Select	ENSP00000318016.7:p.Arg247His
NM_001330609.1:c.296G>A	NP_001317538.1:p.Arg99His
NM_001330609.2:c.296G>A	NP_001317538.1:p.Arg99His
NM_014846.3:c.740G>A	NP_055661.3:p.Arg247His
ENST00000318410.11:c.740G>A	ENSP00000318016.7:p.Arg247His
ENST00000517845.5:c.296G>A	ENSP00000429676.1:p.Arg99His
ENST00000523297.5:c.296G>A	ENSP00000427946.1:p.Arg99His
XM_005251120.2:c.296G>A	XP_005251177.1:p.Arg99His
XM_011517409.1:c.740G>A	XP_011515711.1:p.Arg247His
XM_011517410.1:c.740G>A	XP_011515712.1:p.Arg247His
XM_017014113.2:c.740G>A	XP_016869602.1:p.Arg247His