Canonical Allele Identifier: CA4874059

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 431857
• ClinVar RCV Id: RCV000498521 ; RCV001163828 ; RCV001086849 ; RCV001662485
• dbSNP Id: rs72720524
• ExAC: 8:126091044 G / A
• gnomAD v2: 8-126091044-G-A
• gnomAD v3: 8-125078802-G-A
• gnomAD v4: 8-125078802-G-A
• MyVariant Identifiers: chr8:g.126091044G>A (hg19) ; chr8:g.125078802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125078802G>A , CM000670.2:g.125078802G>A	GRCh38
NC_000008.10:g.126091044G>A , CM000670.1:g.126091044G>A	GRCh37
NC_000008.9:g.126160226G>A	NCBI36
NG_012636.1:g.18018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.647C>T MANE Select	ENSP00000318016.7:p.Pro216Leu
ENST00000318410.11:c.647C>T	ENSP00000318016.7:p.Pro216Leu
ENST00000517845.5:c.203C>T	ENSP00000429676.1:p.Pro68Leu
ENST00000523297.5:c.203C>T	ENSP00000427946.1:p.Pro68Leu
NM_014846.3:c.647C>T	NP_055661.3:p.Pro216Leu
XM_005251120.2:c.203C>T	XP_005251177.1:p.Pro68Leu
XM_011517409.1:c.647C>T	XP_011515711.1:p.Pro216Leu
XM_011517410.1:c.647C>T	XP_011515712.1:p.Pro216Leu
NM_001330609.1:c.203C>T	NP_001317538.1:p.Pro68Leu
XM_017014113.2:c.647C>T	XP_016869602.1:p.Pro216Leu
NM_014846.4:c.647C>T MANE Select	NP_055661.3:p.Pro216Leu
NM_001330609.2:c.203C>T	NP_001317538.1:p.Pro68Leu