Canonical Allele Identifier: CA345045

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 65713
• ClinVar RCV Id: RCV000055943
• dbSNP Id: rs397515564
• MyVariant Identifiers: chr8:g.126067843C>G (hg19) ; chr8:g.125055601C>G (hg38)
• PubMed: PMID:20301727 ; PMID:23455931

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125055601C>G , CM000670.2:g.125055601C>G	GRCh38
NC_000008.10:g.126067843C>G , CM000670.1:g.126067843C>G	GRCh37
NC_000008.9:g.126137025C>G	NCBI36
NG_012636.1:g.41219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2087G>C MANE Select	ENSP00000318016.7:p.Gly696Ala
ENST00000318410.11:c.2087G>C	ENSP00000318016.7:p.Gly696Ala
ENST00000517845.5:c.1643G>C	ENSP00000429676.1:p.Gly548Ala
NM_014846.3:c.2087G>C	NP_055661.3:p.Gly696Ala
XM_005251120.2:c.1643G>C	XP_005251177.1:p.Gly548Ala
XM_011517409.1:c.2087G>C	XP_011515711.1:p.Gly696Ala
XM_011517410.1:c.2087G>C	XP_011515712.1:p.Gly696Ala
NM_001330609.1:c.1643G>C	NP_001317538.1:p.Gly548Ala
XM_017014113.2:c.2087G>C	XP_016869602.1:p.Gly696Ala
NM_014846.4:c.2087G>C MANE Select	NP_055661.3:p.Gly696Ala
NM_001330609.2:c.1643G>C	NP_001317538.1:p.Gly548Ala