Canonical Allele Identifier: CA372191411

Gene: WASHC5

Linked Data

• MyVariant Identifiers: chr8:g.126069880A>G (hg19) ; chr8:g.125057638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125057638A>G , CM000670.2:g.125057638A>G	GRCh38
NC_000008.10:g.126069880A>G , CM000670.1:g.126069880A>G	GRCh37
NC_000008.9:g.126139062A>G	NCBI36
NG_012636.1:g.39182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.1793T>C MANE Select	ENSP00000318016.7:p.Leu598Pro
ENST00000318410.11:c.1793T>C	ENSP00000318016.7:p.Leu598Pro
ENST00000517845.5:c.1349T>C	ENSP00000429676.1:p.Leu450Pro
NM_014846.3:c.1793T>C	NP_055661.3:p.Leu598Pro
XM_005251120.2:c.1349T>C	XP_005251177.1:p.Leu450Pro
XM_011517409.1:c.1793T>C	XP_011515711.1:p.Leu598Pro
XM_011517410.1:c.1793T>C	XP_011515712.1:p.Leu598Pro
NM_001330609.1:c.1349T>C	NP_001317538.1:p.Leu450Pro
XM_017014113.2:c.1793T>C	XP_016869602.1:p.Leu598Pro
NM_014846.4:c.1793T>C MANE Select	NP_055661.3:p.Leu598Pro
NM_001330609.2:c.1349T>C	NP_001317538.1:p.Leu450Pro