Canonical Allele Identifier: CA372194349

Gene: WASHC5

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125073279G>A , CM000670.2:g.125073279G>A	GRCh38
NC_000008.10:g.126085521G>A , CM000670.1:g.126085521G>A	GRCh37
NC_000008.9:g.126154703G>A	NCBI36
NG_012636.1:g.23541C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014846.4:c.1024C>T MANE Select	NP_055661.3:p.Gln342Ter
ENST00000318410.12:c.1024C>T MANE Select	ENSP00000318016.7:p.Gln342Ter
NM_001330609.1:c.580C>T	NP_001317538.1:p.Gln194Ter
NM_001330609.2:c.580C>T	NP_001317538.1:p.Gln194Ter
NM_014846.3:c.1024C>T	NP_055661.3:p.Gln342Ter
ENST00000318410.11:c.1024C>T	ENSP00000318016.7:p.Gln342Ter
ENST00000517845.5:c.580C>T	ENSP00000429676.1:p.Gln194Ter
XM_005251120.2:c.580C>T	XP_005251177.1:p.Gln194Ter
XM_011517409.1:c.1024C>T	XP_011515711.1:p.Gln342Ter
XM_011517410.1:c.1024C>T	XP_011515712.1:p.Gln342Ter
XM_017014113.2:c.1024C>T	XP_016869602.1:p.Gln342Ter