Canonical Allele Identifier: CA3132296
Gene: ANXA10 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.168187403C>G
GRCh37 chr4:g.169108554C>G
Revel Score:
ENST00000359299 (MANE Select) 0.171
ENST00000393751 0.171
gnomAD v2:
4:169108554 C / G
gnomAD v3:
4:168187403 C / G
gnomAD v4:
chr4-168187403-C-G
Joint Max Group AF 0.00019945 (AFR)
Genomes Max Group AF 0.00016677 (AFR)
Exomes Max Group AF 0.00016264 (AFR)
ClinVar RCV:
RCV004159105
ClinVar Variation:
2314894
dbSNP:
747923178
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168187403C>G , CM000666.2:g.168187403C>G GRCh38
NC_000004.11:g.169108554C>G , CM000666.1:g.169108554C>G GRCh37
NC_000004.10:g.169345129C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359299.8:c.944C>G MANE Select ENSP00000352248.3:p.Ala315Gly
ENST00000359299.7:c.944C>G ENSP00000352248.3:p.Ala315Gly
ENST00000507278.5:n.607C>G
ENST00000617524.1:c.941C>G ENSP00000483710.1:p.Ala314Gly
NM_007193.4:c.944C>G NP_009124.2:p.Ala315Gly
XM_011531571.1:c.1004C>G XP_011529873.1:p.Ala335Gly
XR_939424.1:n.140+6994G>C
XR_939425.1:n.140+6994G>C
XM_011531571.2:c.1004C>G XP_011529873.1:p.Ala335Gly
XR_939424.2:n.140+6994G>C
NM_007193.5:c.944C>G MANE Select NP_009124.2:p.Ala315Gly
Search 100 bp 5'
Search 100 bp 3'