Canonical Allele Identifier: CA372181778

Gene: WASHC5

Linked Data

• gnomAD v4: 8-125032331-G-A
• MyVariant Identifiers: chr8:g.126044573G>A (hg19) ; chr8:g.125032331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032331G>A , CM000670.2:g.125032331G>A	GRCh38
NC_000008.10:g.126044573G>A , CM000670.1:g.126044573G>A	GRCh37
NC_000008.9:g.126113755G>A	NCBI36
NG_012636.1:g.64489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3245C>T MANE Select	ENSP00000318016.7:p.Thr1082Ile
ENST00000318410.11:c.3245C>T	ENSP00000318016.7:p.Thr1082Ile
ENST00000517845.5:c.2801C>T	ENSP00000429676.1:p.Thr934Ile
ENST00000519042.2:n.384C>T
NM_014846.3:c.3245C>T	NP_055661.3:p.Thr1082Ile
XM_005251120.2:c.2801C>T	XP_005251177.1:p.Thr934Ile
NM_001330609.1:c.2801C>T	NP_001317538.1:p.Thr934Ile
XM_017014113.2:c.3245C>T	XP_016869602.1:p.Thr1082Ile
NM_014846.4:c.3245C>T MANE Select	NP_055661.3:p.Thr1082Ile
NM_001330609.2:c.2801C>T	NP_001317538.1:p.Thr934Ile