Canonical Allele Identifier: CA2387414
Gene: SLC25A20 HGNC NCBI
ClinVar RCV:
RCV000293988
RCV000507911
RCV003298404
ClinVar Variation:
345941
dbSNP:
149174359
gnomAD v2:
3:48916850 A / G
gnomAD v3:
3:48879417 A / G
gnomAD v4:
chr3-48879417-A-G
Joint Max Group AF 0.00052619 (NFE)
Genomes Max Group AF 0.00034214 (NFE)
Exomes Max Group AF 0.00053052 (NFE)
MyVariant.info:
GRCh38 chr3:g.48879417A>G
GRCh37 chr3:g.48916850A>G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48879417A>G , CM000665.2:g.48879417A>G GRCh38
NC_000003.11:g.48916850A>G , CM000665.1:g.48916850A>G GRCh37
NC_000003.10:g.48891854A>G NCBI36
NG_008171.1:g.24480T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319017.5:c.358T>C MANE Select ENSP00000326305.4:p.Ser120Pro
ENST00000319017.4:c.358T>C ENSP00000326305.4:p.Ser120Pro
ENST00000430379.5:c.198+12563T>C ENSP00000388986.1:n.198+12563T>C
ENST00000440964.1:c.*188T>C ENSP00000388563.1:n.*188T>C
NM_000387.5:c.358T>C NP_000378.1:p.Ser120Pro
XM_006713327.1:c.358T>C XP_006713390.1:p.Ser120Pro
NM_000387.6:c.358T>C MANE Select NP_000378.1:p.Ser120Pro
Search 100 bp 5'
Search 100 bp 3'