Canonical Allele Identifier: CA372186884

Gene: WASHC5 WASHC5-AS1

Linked Data

• ClinVar Variation Id: 1030375
• ClinVar RCV Id: RCV001331907 ; RCV003989683
• dbSNP Id: rs1815967070
• MyVariant Identifiers: chr8:g.126056068T>C (hg19) ; chr8:g.125043826T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125043826T>C , CM000670.2:g.125043826T>C	GRCh38
NC_000008.10:g.126056068T>C , CM000670.1:g.126056068T>C	GRCh37
NC_000008.9:g.126125250T>C	NCBI36
NG_012636.1:g.52994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.2849A>G (WASHC5) MANE Select	ENSP00000318016.7:p.Lys950Arg
ENST00000318410.11:c.2849A>G (WASHC5)	ENSP00000318016.7:p.Lys950Arg
ENST00000517845.5:c.2405A>G (WASHC5)	ENSP00000429676.1:p.Lys802Arg
NM_014846.3:c.2849A>G (WASHC5)	NP_055661.3:p.Lys950Arg
XM_005251120.2:c.2405A>G (WASHC5)	XP_005251177.1:p.Lys802Arg
XM_011517409.1:c.2849A>G (WASHC5)	XP_011515711.1:p.Lys950Arg
XM_011517410.1:c.2849A>G (WASHC5)	XP_011515712.1:p.Lys950Arg
NM_001330609.1:c.2405A>G (WASHC5)	NP_001317538.1:p.Lys802Arg
XM_017014113.2:c.2849A>G (WASHC5)	XP_016869602.1:p.Lys950Arg
NM_014846.4:c.2849A>G (WASHC5) MANE Select	NP_055661.3:p.Lys950Arg
NM_001330609.2:c.2405A>G (WASHC5)	NP_001317538.1:p.Lys802Arg
NR_170219.1:n.97-673T>C (WASHC5-AS1)