Canonical Allele Identifier: CA372181746

Gene: WASHC5

Linked Data

• MyVariant Identifiers: chr8:g.126044567A>C (hg19) ; chr8:g.125032325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125032325A>C , CM000670.2:g.125032325A>C	GRCh38
NC_000008.10:g.126044567A>C , CM000670.1:g.126044567A>C	GRCh37
NC_000008.9:g.126113749A>C	NCBI36
NG_012636.1:g.64495T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.3251T>G MANE Select	ENSP00000318016.7:p.Leu1084Arg
ENST00000318410.11:c.3251T>G	ENSP00000318016.7:p.Leu1084Arg
ENST00000517845.5:c.2807T>G	ENSP00000429676.1:p.Leu936Arg
ENST00000519042.2:n.390T>G
NM_014846.3:c.3251T>G	NP_055661.3:p.Leu1084Arg
XM_005251120.2:c.2807T>G	XP_005251177.1:p.Leu936Arg
NM_001330609.1:c.2807T>G	NP_001317538.1:p.Leu936Arg
XM_017014113.2:c.3251T>G	XP_016869602.1:p.Leu1084Arg
NM_014846.4:c.3251T>G MANE Select	NP_055661.3:p.Leu1084Arg
NM_001330609.2:c.2807T>G	NP_001317538.1:p.Leu936Arg