Canonical Allele Identifier: CA846928437

Gene: WASHC5

Linked Data

• dbSNP Id: rs1165775989
• gnomAD v4: 8-125057497-T-C
• MyVariant Identifiers: chr8:g.126069739T>C (hg19) ; chr8:g.125057497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057497T>C , CM000670.2:g.125057497T>C	GRCh38
NC_000008.10:g.126069739T>C , CM000670.1:g.126069739T>C	GRCh37
NC_000008.9:g.126138921T>C	NCBI36
NG_012636.1:g.39323A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318410.12:c.1875+59A>G MANE Select	ENSP00000318016.7:n.1875+59A>G
ENST00000318410.11:c.1875+59A>G	ENSP00000318016.7:n.1875+59A>G
ENST00000517845.5:c.1431+59A>G	ENSP00000429676.1:n.1431+59A>G
NM_014846.3:c.1875+59A>G	NP_055661.3:n.1875+59A>G
XM_005251120.2:c.1431+59A>G	XP_005251177.1:n.1431+59A>G
XM_011517409.1:c.1875+59A>G	XP_011515711.1:n.1875+59A>G
XM_011517410.1:c.1875+59A>G	XP_011515712.1:n.1875+59A>G
NM_001330609.1:c.1431+59A>G	NP_001317538.1:n.1431+59A>G
XM_017014113.2:c.1875+59A>G	XP_016869602.1:n.1875+59A>G
NM_014846.4:c.1875+59A>G MANE Select	NP_055661.3:n.1875+59A>G
NM_001330609.2:c.1431+59A>G	NP_001317538.1:n.1431+59A>G