Canonical Allele Identifier: CA372181633

Gene: WASHC5

Linked Data

• dbSNP Id: rs1815566393
• gnomAD v4: 8-125032317-A-G
• MyVariant Identifiers: chr8:g.126044559A>G (hg19) ; chr8:g.125032317A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032317A>G , CM000670.2:g.125032317A>G	GRCh38
NC_000008.10:g.126044559A>G , CM000670.1:g.126044559A>G	GRCh37
NC_000008.9:g.126113741A>G	NCBI36
NG_012636.1:g.64503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3259T>C MANE Select	ENSP00000318016.7:p.Phe1087Leu
ENST00000318410.11:c.3259T>C	ENSP00000318016.7:p.Phe1087Leu
ENST00000517845.5:c.2815T>C	ENSP00000429676.1:p.Phe939Leu
ENST00000519042.2:n.398T>C
NM_014846.3:c.3259T>C	NP_055661.3:p.Phe1087Leu
XM_005251120.2:c.2815T>C	XP_005251177.1:p.Phe939Leu
NM_001330609.1:c.2815T>C	NP_001317538.1:p.Phe939Leu
XM_017014113.2:c.3259T>C	XP_016869602.1:p.Phe1087Leu
NM_014846.4:c.3259T>C MANE Select	NP_055661.3:p.Phe1087Leu
NM_001330609.2:c.2815T>C	NP_001317538.1:p.Phe939Leu