Canonical Allele Identifier: CA373842101
Community Standard Title: NM_033305.3(VPS13A):c.386-2A>G
Gene: VPS13A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77209421A>G , CM000671.2:g.77209421A>G GRCh38
NC_000009.11:g.79824337A>G , CM000671.1:g.79824337A>G GRCh37
NC_000009.10:g.79014157A>G NCBI36
NG_008931.1:g.36977A>G

Transcript Alleles

HGVS Amino-acid Change
NM_033305.3:c.386-2A>G MANE Select NP_150648.2:n.386-2A>G
ENST00000360280.8:c.386-2A>G MANE Select ENSP00000353422.3:n.386-2A>G
NM_001018037.1:c.386-2A>G NP_001018047.1:n.386-2A>G
NM_001018037.2:c.386-2A>G NP_001018047.1:n.386-2A>G
NM_001018038.2:c.386-2A>G NP_001018048.1:n.386-2A>G
NM_001018038.3:c.386-2A>G NP_001018048.1:n.386-2A>G
NM_015186.3:c.386-2A>G NP_056001.1:n.386-2A>G
NM_015186.4:c.386-2A>G NP_056001.1:n.386-2A>G
NM_033305.2:c.386-2A>G NP_150648.2:n.386-2A>G
ENST00000357409.9:c.386-2A>G ENSP00000349985.5:n.386-2A>G
ENST00000360280.7:c.386-2A>G ENSP00000353422.3:n.386-2A>G
ENST00000376634.8:c.386-2A>G ENSP00000365821.4:n.386-2A>G
ENST00000376636.7:c.386-2A>G ENSP00000365823.3:n.386-2A>G
ENST00000643348.1:c.386-2A>G ENSP00000493592.1:n.386-2A>G
ENST00000645632.1:c.386-2A>G ENSP00000496361.1:n.386-2A>G
XR_001746259.1:n.738-2A>G
XR_001746260.1:n.738-2A>G
XR_242579.2:n.738-2A>G
XR_242580.3:n.738-2A>G
XR_929740.1:n.738-2A>G