Canonical Allele Identifier: CA372192059
Community Standard Title: NM_014846.4(WASHC5):c.1669G>T (p.Ala557Ser)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125059395C>A , CM000670.2:g.125059395C>A GRCh38
NC_000008.10:g.126071637C>A , CM000670.1:g.126071637C>A GRCh37
NC_000008.9:g.126140819C>A NCBI36
NG_012636.1:g.37425G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.1669G>T MANE Select NP_055661.3:p.Ala557Ser
ENST00000318410.12:c.1669G>T MANE Select ENSP00000318016.7:p.Ala557Ser
NM_001330609.1:c.1225G>T NP_001317538.1:p.Ala409Ser
NM_001330609.2:c.1225G>T NP_001317538.1:p.Ala409Ser
NM_014846.3:c.1669G>T NP_055661.3:p.Ala557Ser
ENST00000318410.11:c.1669G>T ENSP00000318016.7:p.Ala557Ser
ENST00000517845.5:c.1225G>T ENSP00000429676.1:p.Ala409Ser
XM_005251120.2:c.1225G>T XP_005251177.1:p.Ala409Ser
XM_011517409.1:c.1669G>T XP_011515711.1:p.Ala557Ser
XM_011517410.1:c.1669G>T XP_011515712.1:p.Ala557Ser
XM_017014113.2:c.1669G>T XP_016869602.1:p.Ala557Ser