Canonical Allele Identifier: CA1598135
Gene: EHD3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31266694T>C
GRCh37 chr2:g.31489560T>C
Revel Score:
ENST00000322054 (MANE Select) 0.055
gnomAD v2:
2:31489560 T / C
gnomAD v3:
2:31266694 T / C
gnomAD v4:
chr2-31266694-T-C
Joint Max Group AF 0.00001384 (NFE)
Exomes Max Group AF 0.00001386 (NFE)
ClinVar RCV:
RCV004087137
ClinVar Variation:
2226925
dbSNP:
368461616
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31266694T>C , CM000664.2:g.31266694T>C GRCh38
NC_000002.11:g.31489560T>C , CM000664.1:g.31489560T>C GRCh37
NC_000002.10:g.31343064T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000322054.10:c.1598T>C MANE Select ENSP00000327116.5:p.Val533Ala
ENST00000322054.9:c.1598T>C ENSP00000327116.5:p.Val533Ala
ENST00000541626.2:c.1597T>C ENSP00000440685.2:p.Leu533=
NM_014600.2:c.1598T>C NP_055415.1:p.Val533Ala
XM_011532806.1:c.959T>C XP_011531108.1:p.Val320Ala
XM_011532806.2:c.959T>C XP_011531108.1:p.Val320Ala
NM_014600.3:c.1598T>C MANE Select NP_055415.1:p.Val533Ala
Search 100 bp 5'
Search 100 bp 3'