Canonical Allele Identifier: CA16612351

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 410079
• ClinVar RCV Id: RCV000490087 ; RCV001391386 ; RCV002230093
• dbSNP Id: rs1060502725
• MyVariant Identifiers: chr8:g.126067844C>T (hg19) ; chr8:g.125055602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125055602C>T , CM000670.2:g.125055602C>T	GRCh38
NC_000008.10:g.126067844C>T , CM000670.1:g.126067844C>T	GRCh37
NC_000008.9:g.126137026C>T	NCBI36
NG_012636.1:g.41218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2086G>A MANE Select	ENSP00000318016.7:p.Gly696Ser
ENST00000318410.11:c.2086G>A	ENSP00000318016.7:p.Gly696Ser
ENST00000517845.5:c.1642G>A	ENSP00000429676.1:p.Gly548Ser
NM_014846.3:c.2086G>A	NP_055661.3:p.Gly696Ser
XM_005251120.2:c.1642G>A	XP_005251177.1:p.Gly548Ser
XM_011517409.1:c.2086G>A	XP_011515711.1:p.Gly696Ser
XM_011517410.1:c.2086G>A	XP_011515712.1:p.Gly696Ser
NM_001330609.1:c.1642G>A	NP_001317538.1:p.Gly548Ser
XM_017014113.2:c.2086G>A	XP_016869602.1:p.Gly696Ser
NM_014846.4:c.2086G>A MANE Select	NP_055661.3:p.Gly696Ser
NM_001330609.2:c.1642G>A	NP_001317538.1:p.Gly548Ser