Canonical Allele Identifier: CA8147906
Gene: VAC14 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70781892A>T , CM000678.2:g.70781892A>T GRCh38
NC_000016.9:g.70815795A>T , CM000678.1:g.70815795A>T GRCh37
NC_000016.8:g.69373296A>T NCBI36
NG_054902.1:g.24278T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261776.10:c.923T>A MANE Select ENSP00000261776.5:p.Leu308Ter
ENST00000261776.9:c.923T>A ENSP00000261776.5:p.Leu308Ter
ENST00000566655.1:n.1226T>A
ENST00000568548.5:c.*649T>A ENSP00000454650.1:n.*649T>A
ENST00000568886.5:c.492+2878T>A ENSP00000457809.1:n.492+2878T>A
NM_018052.3:c.923T>A NP_060522.3:p.Leu308Ter
XM_005256038.2:c.923T>A XP_005256095.1:p.Leu308Ter
XM_005256041.2:c.923T>A XP_005256098.2:p.Leu308Ter
XM_011523223.1:c.923T>A XP_011521525.1:p.Leu308Ter
XM_011523224.1:c.923T>A XP_011521526.1:p.Leu308Ter
XM_011523225.1:c.923T>A XP_011521527.1:p.Leu308Ter
NM_001351157.1:c.221T>A NP_001338086.1:p.Leu74Ter
NM_018052.4:c.923T>A NP_060522.3:p.Leu308Ter
XM_005256038.4:c.923T>A XP_005256095.1:p.Leu308Ter
XM_005256041.4:c.923T>A XP_005256098.2:p.Leu308Ter
XM_011523223.3:c.923T>A XP_011521525.1:p.Leu308Ter
XM_011523224.3:c.923T>A XP_011521526.1:p.Leu308Ter
XM_011523225.3:c.923T>A XP_011521527.1:p.Leu308Ter
XM_017023441.2:c.923T>A XP_016878930.1:p.Leu308Ter
XM_017023442.2:c.923T>A XP_016878931.1:p.Leu308Ter
NM_018052.5:c.923T>A MANE Select NP_060522.3:p.Leu308Ter
NM_001351157.2:c.221T>A NP_001338086.1:p.Leu74Ter