Canonical Allele Identifier: CA1640055
Gene: SLC3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.44275766T>A
GRCh37 chr2:g.44502905T>A
gnomAD v2:
2:44502905 T / A
gnomAD v3:
2:44275766 T / A
gnomAD v4:
chr2-44275766-T-A
Joint Max Group AF 0.00383933 (NFE)
Genomes Max Group AF 0.00325899 (NFE)
Exomes Max Group AF 0.0038549 (NFE)
ClinVar RCV:
RCV001000375
RCV001706690
ClinVar Variation:
526034
dbSNP:
146630359
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44275766T>A , CM000664.2:g.44275766T>A GRCh38
NC_000002.11:g.44502905T>A , CM000664.1:g.44502905T>A GRCh37
NC_000002.10:g.44356409T>A NCBI36
NG_008233.1:g.5309T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260649.11:c.231T>A MANE Select ENSP00000260649.6:p.Ser77=
ENST00000649044.1:c.*242T>A ENSP00000497083.1:n.*242T>A
ENST00000260649.10:c.231T>A ENSP00000260649.6:p.Ser77=
ENST00000409229.7:c.231T>A ENSP00000386620.3:p.Ser77=
ENST00000409387.5:c.231T>A ENSP00000387308.1:p.Ser77=
ENST00000409741.5:c.231T>A ENSP00000386954.1:p.Ser77=
ENST00000410056.7:c.231T>A ENSP00000387337.3:p.Ser77=
ENST00000611973.4:c.231T>A ENSP00000483618.1:p.Ser77=
NM_000341.3:c.231T>A NP_000332.2:p.Ser77=
XM_011533047.1:c.231T>A XP_011531349.1:p.Ser77=
XM_011533047.3:c.231T>A XP_011531349.1:p.Ser77=
NM_000341.4:c.231T>A MANE Select NP_000332.2:p.Ser77=
Search 100 bp 5'
Search 100 bp 3'