Canonical Allele Identifier: CA372181383

Gene: WASHC5

Linked Data

• MyVariant Identifiers: chr8:g.126044529C>G (hg19) ; chr8:g.125032287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032287C>G , CM000670.2:g.125032287C>G	GRCh38
NC_000008.10:g.126044529C>G , CM000670.1:g.126044529C>G	GRCh37
NC_000008.9:g.126113711C>G	NCBI36
NG_012636.1:g.64533G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3289G>C MANE Select	ENSP00000318016.7:p.Ala1097Pro
ENST00000318410.11:c.3289G>C	ENSP00000318016.7:p.Ala1097Pro
ENST00000517845.5:c.2845G>C	ENSP00000429676.1:p.Ala949Pro
ENST00000519042.2:n.428G>C
NM_014846.3:c.3289G>C	NP_055661.3:p.Ala1097Pro
XM_005251120.2:c.2845G>C	XP_005251177.1:p.Ala949Pro
NM_001330609.1:c.2845G>C	NP_001317538.1:p.Ala949Pro
XM_017014113.2:c.3289G>C	XP_016869602.1:p.Ala1097Pro
NM_014846.4:c.3289G>C MANE Select	NP_055661.3:p.Ala1097Pro
NM_001330609.2:c.2845G>C	NP_001317538.1:p.Ala949Pro