Canonical Allele Identifier: CA372187249

Gene: WASHC5 WASHC5-AS1

Linked Data

• dbSNP Id: rs1434612163
• gnomAD v4: 8-125043874-A-G
• MyVariant Identifiers: chr8:g.126056116A>G (hg19) ; chr8:g.125043874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125043874A>G , CM000670.2:g.125043874A>G	GRCh38
NC_000008.10:g.126056116A>G , CM000670.1:g.126056116A>G	GRCh37
NC_000008.9:g.126125298A>G	NCBI36
NG_012636.1:g.52946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2801T>C (WASHC5) MANE Select	ENSP00000318016.7:p.Ile934Thr
ENST00000318410.11:c.2801T>C (WASHC5)	ENSP00000318016.7:p.Ile934Thr
ENST00000517845.5:c.2357T>C (WASHC5)	ENSP00000429676.1:p.Ile786Thr
NM_014846.3:c.2801T>C (WASHC5)	NP_055661.3:p.Ile934Thr
XM_005251120.2:c.2357T>C (WASHC5)	XP_005251177.1:p.Ile786Thr
XM_011517409.1:c.2801T>C (WASHC5)	XP_011515711.1:p.Ile934Thr
XM_011517410.1:c.2801T>C (WASHC5)	XP_011515712.1:p.Ile934Thr
NM_001330609.1:c.2357T>C (WASHC5)	NP_001317538.1:p.Ile786Thr
XM_017014113.2:c.2801T>C (WASHC5)	XP_016869602.1:p.Ile934Thr
NM_014846.4:c.2801T>C (WASHC5) MANE Select	NP_055661.3:p.Ile934Thr
NM_001330609.2:c.2357T>C (WASHC5)	NP_001317538.1:p.Ile786Thr
NR_170219.1:n.97-625A>G (WASHC5-AS1)