Canonical Allele Identifier: CA462767096

Gene: WASHC5

Linked Data

• gnomAD v4: 8-125032333-G-T
• MyVariant Identifiers: chr8:g.126044575G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032333G>T , CM000670.2:g.125032333G>T	GRCh38
NC_000008.10:g.126044575G>T , CM000670.1:g.126044575G>T	GRCh37
NC_000008.9:g.126113757G>T	NCBI36
NG_012636.1:g.64487C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3243C>A MANE Select	ENSP00000318016.7:p.Leu1081=
ENST00000318410.11:c.3243C>A	ENSP00000318016.7:p.Leu1081=
ENST00000517845.5:c.2799C>A	ENSP00000429676.1:p.Leu933=
ENST00000519042.2:n.382C>A
NM_014846.3:c.3243C>A	NP_055661.3:p.Leu1081=
XM_005251120.2:c.2799C>A	XP_005251177.1:p.Leu933=
NM_001330609.1:c.2799C>A	NP_001317538.1:p.Leu933=
XM_017014113.2:c.3243C>A	XP_016869602.1:p.Leu1081=
NM_014846.4:c.3243C>A MANE Select	NP_055661.3:p.Leu1081=
NM_001330609.2:c.2799C>A	NP_001317538.1:p.Leu933=