Canonical Allele Identifier: CA372181319

Gene: WASHC5

Linked Data

• MyVariant Identifiers: chr8:g.126044523T>A (hg19) ; chr8:g.125032281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032281T>A , CM000670.2:g.125032281T>A	GRCh38
NC_000008.10:g.126044523T>A , CM000670.1:g.126044523T>A	GRCh37
NC_000008.9:g.126113705T>A	NCBI36
NG_012636.1:g.64539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3295A>T MANE Select	ENSP00000318016.7:p.Ile1099Phe
ENST00000318410.11:c.3295A>T	ENSP00000318016.7:p.Ile1099Phe
ENST00000517845.5:c.2851A>T	ENSP00000429676.1:p.Ile951Phe
ENST00000519042.2:n.434A>T
NM_014846.3:c.3295A>T	NP_055661.3:p.Ile1099Phe
XM_005251120.2:c.2851A>T	XP_005251177.1:p.Ile951Phe
NM_001330609.1:c.2851A>T	NP_001317538.1:p.Ile951Phe
XM_017014113.2:c.3295A>T	XP_016869602.1:p.Ile1099Phe
NM_014846.4:c.3295A>T MANE Select	NP_055661.3:p.Ile1099Phe
NM_001330609.2:c.2851A>T	NP_001317538.1:p.Ile951Phe