Canonical Allele Identifier: CA10402249
Gene: SLC38A5 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.48461052C>T
GRCh37 chrX:g.48319438C>T
Revel Score:
ENST00000376876 0.034
ENST00000376875 0.034
ENST00000317669 0.034
gnomAD v2:
X:48319438 C / T
gnomAD v3:
X:48461052 C / T
gnomAD v4:
chrX-48461052-C-T
Joint Max Group AF 0.00177918 (AFR)
Genomes Max Group AF 0.00143547 (AFR)
Exomes Max Group AF 0.00191468 (AFR)
ClinVar Allele:
2342148
ClinVar RCV:
RCV004191739
ClinVar Variation:
2349764
dbSNP:
140600188
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48461052C>T , CM000685.2:g.48461052C>T GRCh38
NC_000023.10:g.48319438C>T , CM000685.1:g.48319438C>T GRCh37
NC_000023.9:g.48204382C>T NCBI36
NG_021469.2:g.14205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000620913.5:c.886G>A MANE Select ENSP00000481291.1:p.Val296Met
ENST00000494034.5:c.459G>A
ENST00000497336.1:n.346-2360G>A
ENST00000595796.5:c.886G>A ENSP00000471683.1:p.Val296Met
ENST00000619100.4:c.733G>A ENSP00000478807.1:p.Val245Met
ENST00000620913.4:c.886G>A ENSP00000481291.1:p.Val296Met
ENST00000622196.4:c.484G>A ENSP00000484236.1:p.Val162Met
NM_033518.3:c.886G>A NP_277053.2:p.Val296Met
XM_005272694.3:c.1027G>A XP_005272751.2:p.Val343Met
XM_005272695.3:c.886G>A XP_005272752.2:p.Val296Met
XM_005272697.2:c.904G>A XP_005272754.2:p.Val302Met
XM_005272698.3:c.886G>A XP_005272755.2:p.Val296Met
XM_006724569.2:c.886G>A XP_006724632.1:p.Val296Met
XM_005272695.4:c.1027G>A XP_005272752.3:p.Val343Met
XM_005272698.5:c.886G>A XP_005272755.2:p.Val296Met
XM_006724569.3:c.886G>A XP_006724632.1:p.Val296Met
XM_017029960.1:c.904G>A XP_016885449.1:p.Val302Met
XM_017029961.2:c.886G>A XP_016885450.1:p.Val296Met
NM_033518.4:c.886G>A MANE Select NP_277053.2:p.Val296Met
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