Canonical Allele Identifier: CA372191456

Gene: WASHC5

Linked Data

• ClinVar Variation Id: 463137
• ClinVar RCV Id: RCV000555090 ; RCV000825002 ; RCV001542471
• dbSNP Id: rs1554593901
• MyVariant Identifiers: chr8:g.126069902A>G (hg19) ; chr8:g.125057660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057660A>G , CM000670.2:g.125057660A>G	GRCh38
NC_000008.10:g.126069902A>G , CM000670.1:g.126069902A>G	GRCh37
NC_000008.9:g.126139084A>G	NCBI36
NG_012636.1:g.39160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1771T>C MANE Select	ENSP00000318016.7:p.Ser591Pro
ENST00000318410.11:c.1771T>C	ENSP00000318016.7:p.Ser591Pro
ENST00000517845.5:c.1327T>C	ENSP00000429676.1:p.Ser443Pro
NM_014846.3:c.1771T>C	NP_055661.3:p.Ser591Pro
XM_005251120.2:c.1327T>C	XP_005251177.1:p.Ser443Pro
XM_011517409.1:c.1771T>C	XP_011515711.1:p.Ser591Pro
XM_011517410.1:c.1771T>C	XP_011515712.1:p.Ser591Pro
NM_001330609.1:c.1327T>C	NP_001317538.1:p.Ser443Pro
XM_017014113.2:c.1771T>C	XP_016869602.1:p.Ser591Pro
NM_014846.4:c.1771T>C MANE Select	NP_055661.3:p.Ser591Pro
NM_001330609.2:c.1327T>C	NP_001317538.1:p.Ser443Pro