Canonical Allele Identifier: CA11299360
Gene: EHD3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31266861T>C
GRCh37 chr2:g.31489727T>C
gnomAD v2:
2:31489727 T / C
gnomAD v3:
2:31266861 T / C
gnomAD v4:
chr2-31266861-T-C
Joint Max Group AF 0.94751092 (AFR)
Genomes Max Group AF 0.94420058 (AFR)
Exomes Max Group AF 0.94666342 (AFR)
dbSNP:
644926
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31266861T>C , CM000664.2:g.31266861T>C GRCh38
NC_000002.11:g.31489727T>C , CM000664.1:g.31489727T>C GRCh37
NC_000002.10:g.31343231T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000322054.10:c.*157T>C MANE Select ENSP00000327116.5:n.*157T>C
ENST00000322054.9:c.*157T>C ENSP00000327116.5:n.*157T>C
ENST00000541626.2:c.*123T>C ENSP00000440685.2:n.*123T>C
NM_014600.2:c.*157T>C NP_055415.1:n.*157T>C
XM_011532806.1:c.*157T>C XP_011531108.1:n.*157T>C
XM_011532806.2:c.*157T>C XP_011531108.1:n.*157T>C
NM_014600.3:c.*157T>C MANE Select NP_055415.1:n.*157T>C
Search 100 bp 5'
Search 100 bp 3'