Canonical Allele Identifier: CA372196302

Gene: WASHC5

Linked Data

• MyVariant Identifiers: chr8:g.126091052C>A (hg19) ; chr8:g.125078810C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125078810C>A , CM000670.2:g.125078810C>A	GRCh38
NC_000008.10:g.126091052C>A , CM000670.1:g.126091052C>A	GRCh37
NC_000008.9:g.126160234C>A	NCBI36
NG_012636.1:g.18010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318410.12:c.639G>T MANE Select	ENSP00000318016.7:p.Gln213His
ENST00000318410.11:c.639G>T	ENSP00000318016.7:p.Gln213His
ENST00000517845.5:c.195G>T	ENSP00000429676.1:p.Gln65His
ENST00000523297.5:c.195G>T	ENSP00000427946.1:p.Gln65His
NM_014846.3:c.639G>T	NP_055661.3:p.Gln213His
XM_005251120.2:c.195G>T	XP_005251177.1:p.Gln65His
XM_011517409.1:c.639G>T	XP_011515711.1:p.Gln213His
XM_011517410.1:c.639G>T	XP_011515712.1:p.Gln213His
NM_001330609.1:c.195G>T	NP_001317538.1:p.Gln65His
XM_017014113.2:c.639G>T	XP_016869602.1:p.Gln213His
NM_014846.4:c.639G>T MANE Select	NP_055661.3:p.Gln213His
NM_001330609.2:c.195G>T	NP_001317538.1:p.Gln65His