Canonical Allele Identifier: CA5063315
Gene: SLC25A51 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.37888488T>C
GRCh37 chr9:g.37888485T>C
Revel Score:
ENST00000380590 0.175
ENST00000377716 0.175
ENST00000242275 (MANE Select) 0.175
gnomAD v2:
9:37888485 T / C
gnomAD v3:
9:37888488 T / C
gnomAD v4:
chr9-37888488-T-C
Joint Max Group AF 0.00272951 (MID)
Genomes Max Group AF 0.00025994 (AMR)
Exomes Max Group AF 0.0025817 (MID)
ClinVar RCV:
RCV004073029
ClinVar Variation:
2207508
dbSNP:
148608996
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37888488T>C , CM000671.2:g.37888488T>C GRCh38
NC_000009.11:g.37888485T>C , CM000671.1:g.37888485T>C GRCh37
NC_000009.10:g.37878485T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000242275.7:c.63A>G MANE Select ENSP00000242275.6:p.Ile21Met
ENST00000242275.6:c.63A>G ENSP00000242275.6:p.Ile21Met
ENST00000377716.6:c.63A>G ENSP00000366945.2:p.Ile21Met
ENST00000380590.3:c.63A>G ENSP00000369964.3:p.Ile21Met
ENST00000496760.5:n.409-6857A>G
ENST00000540557.1:c.*681+11341A>G ENSP00000457548.1:n.*681+11341A>G
NM_033412.3:c.63A>G NP_219480.1:p.Ile21Met
NR_024872.2:n.436-6857A>G
NR_024873.2:n.409-6857A>G
NM_033412.4:c.63A>G MANE Select NP_219480.1:p.Ile21Met
NR_024872.3:n.210-6857A>G
NR_024873.3:n.183-6857A>G
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