Canonical Allele Identifier: CA4873307
Community Standard Title: NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)
Gene: WASHC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125037300G>C , CM000670.2:g.125037300G>C GRCh38
NC_000008.10:g.126049542G>C , CM000670.1:g.126049542G>C GRCh37
NC_000008.9:g.126118724G>C NCBI36
NG_012636.1:g.59520C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014846.4:c.3118C>G MANE Select NP_055661.3:p.Pro1040Ala
ENST00000318410.12:c.3118C>G MANE Select ENSP00000318016.7:p.Pro1040Ala
NM_001330609.1:c.2674C>G NP_001317538.1:p.Pro892Ala
NM_001330609.2:c.2674C>G NP_001317538.1:p.Pro892Ala
NM_014846.3:c.3118C>G NP_055661.3:p.Pro1040Ala
ENST00000318410.11:c.3118C>G ENSP00000318016.7:p.Pro1040Ala
ENST00000517845.5:c.2674C>G ENSP00000429676.1:p.Pro892Ala
XM_005251120.2:c.2674C>G XP_005251177.1:p.Pro892Ala
XM_011517409.1:c.3118C>G XP_011515711.1:p.Pro1040Ala
XM_011517410.1:c.3118C>G XP_011515712.1:p.Pro1040Ala
XM_017014113.2:c.3118C>G XP_016869602.1:p.Pro1040Ala