Canonical Allele Identifier: CA372191292

Gene: WASHC5

Linked Data

• dbSNP Id: rs1057518000
• gnomAD v2: 8-126069826-G-C
• MyVariant Identifiers: chr8:g.126069826G>C (hg19) ; chr8:g.125057584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057584G>C , CM000670.2:g.125057584G>C	GRCh38
NC_000008.10:g.126069826G>C , CM000670.1:g.126069826G>C	GRCh37
NC_000008.9:g.126139008G>C	NCBI36
NG_012636.1:g.39236C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318410.12:c.1847C>G MANE Select	ENSP00000318016.7:p.Ser616Cys
ENST00000318410.11:c.1847C>G	ENSP00000318016.7:p.Ser616Cys
ENST00000517845.5:c.1403C>G	ENSP00000429676.1:p.Ser468Cys
NM_014846.3:c.1847C>G	NP_055661.3:p.Ser616Cys
XM_005251120.2:c.1403C>G	XP_005251177.1:p.Ser468Cys
XM_011517409.1:c.1847C>G	XP_011515711.1:p.Ser616Cys
XM_011517410.1:c.1847C>G	XP_011515712.1:p.Ser616Cys
NM_001330609.1:c.1403C>G	NP_001317538.1:p.Ser468Cys
XM_017014113.2:c.1847C>G	XP_016869602.1:p.Ser616Cys
NM_014846.4:c.1847C>G MANE Select	NP_055661.3:p.Ser616Cys
NM_001330609.2:c.1403C>G	NP_001317538.1:p.Ser468Cys