Canonical Allele Identifier: CA372191235

Gene: WASHC5

Linked Data

• dbSNP Id: rs1307409056
• gnomAD v2: 8-126069799-T-C
• gnomAD v4: 8-125057557-T-C
• COSMIC: COSM4879765
• MyVariant Identifiers: chr8:g.126069799T>C (hg19) ; chr8:g.125057557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057557T>C , CM000670.2:g.125057557T>C	GRCh38
NC_000008.10:g.126069799T>C , CM000670.1:g.126069799T>C	GRCh37
NC_000008.9:g.126138981T>C	NCBI36
NG_012636.1:g.39263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1874A>G MANE Select	ENSP00000318016.7:p.Lys625Arg
ENST00000318410.11:c.1874A>G	ENSP00000318016.7:p.Lys625Arg
ENST00000517845.5:c.1430A>G	ENSP00000429676.1:p.Lys477Arg
NM_014846.3:c.1874A>G	NP_055661.3:p.Lys625Arg
XM_005251120.2:c.1430A>G	XP_005251177.1:p.Lys477Arg
XM_011517409.1:c.1874A>G	XP_011515711.1:p.Lys625Arg
XM_011517410.1:c.1874A>G	XP_011515712.1:p.Lys625Arg
NM_001330609.1:c.1430A>G	NP_001317538.1:p.Lys477Arg
XM_017014113.2:c.1874A>G	XP_016869602.1:p.Lys625Arg
NM_014846.4:c.1874A>G MANE Select	NP_055661.3:p.Lys625Arg
NM_001330609.2:c.1430A>G	NP_001317538.1:p.Lys477Arg