Canonical Allele Identifier: CA2688510099

Gene: WASHC5

Linked Data

• gnomAD v4: 8-125057511-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057511G>T , CM000670.2:g.125057511G>T	GRCh38
NC_000008.10:g.126069753G>T , CM000670.1:g.126069753G>T	GRCh37
NC_000008.9:g.126138935G>T	NCBI36
NG_012636.1:g.39309C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318410.12:c.1875+45C>A MANE Select	ENSP00000318016.7:n.1875+45C>A
ENST00000318410.11:c.1875+45C>A	ENSP00000318016.7:n.1875+45C>A
ENST00000517845.5:c.1431+45C>A	ENSP00000429676.1:n.1431+45C>A
NM_014846.3:c.1875+45C>A	NP_055661.3:n.1875+45C>A
XM_005251120.2:c.1431+45C>A	XP_005251177.1:n.1431+45C>A
XM_011517409.1:c.1875+45C>A	XP_011515711.1:n.1875+45C>A
XM_011517410.1:c.1875+45C>A	XP_011515712.1:n.1875+45C>A
NM_001330609.1:c.1431+45C>A	NP_001317538.1:n.1431+45C>A
XM_017014113.2:c.1875+45C>A	XP_016869602.1:n.1875+45C>A
NM_014846.4:c.1875+45C>A MANE Select	NP_055661.3:n.1875+45C>A
NM_001330609.2:c.1431+45C>A	NP_001317538.1:n.1431+45C>A