Canonical Allele Identifier: CA4873698

Gene: WASHC5

Linked Data

• dbSNP Id: rs746499867
• ExAC: 8:126069756 G / A
• gnomAD v2: 8-126069756-G-A
• gnomAD v3: 8-125057514-G-A
• gnomAD v4: 8-125057514-G-A
• MyVariant Identifiers: chr8:g.126069756G>A (hg19) ; chr8:g.125057514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057514G>A , CM000670.2:g.125057514G>A	GRCh38
NC_000008.10:g.126069756G>A , CM000670.1:g.126069756G>A	GRCh37
NC_000008.9:g.126138938G>A	NCBI36
NG_012636.1:g.39306C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318410.12:c.1875+42C>T MANE Select	ENSP00000318016.7:n.1875+42C>T
ENST00000318410.11:c.1875+42C>T	ENSP00000318016.7:n.1875+42C>T
ENST00000517845.5:c.1431+42C>T	ENSP00000429676.1:n.1431+42C>T
NM_014846.3:c.1875+42C>T	NP_055661.3:n.1875+42C>T
XM_005251120.2:c.1431+42C>T	XP_005251177.1:n.1431+42C>T
XM_011517409.1:c.1875+42C>T	XP_011515711.1:n.1875+42C>T
XM_011517410.1:c.1875+42C>T	XP_011515712.1:n.1875+42C>T
NM_001330609.1:c.1431+42C>T	NP_001317538.1:n.1431+42C>T
XM_017014113.2:c.1875+42C>T	XP_016869602.1:n.1875+42C>T
NM_014846.4:c.1875+42C>T MANE Select	NP_055661.3:n.1875+42C>T
NM_001330609.2:c.1431+42C>T	NP_001317538.1:n.1431+42C>T