Canonical Allele Identifier: CA1640208
Community Standard Title: NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter)
Gene: SLC3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44281446C>T , CM000664.2:g.44281446C>T GRCh38
NC_000002.11:g.44508585C>T , CM000664.1:g.44508585C>T GRCh37
NC_000002.10:g.44362089C>T NCBI36
NG_008233.1:g.10989C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000341.4:c.670C>T MANE Select NP_000332.2:p.Gln224Ter
ENST00000260649.11:c.670C>T MANE Select ENSP00000260649.6:p.Gln224Ter
NM_000341.3:c.670C>T NP_000332.2:p.Gln224Ter
ENST00000260649.10:c.670C>T ENSP00000260649.6:p.Gln224Ter
ENST00000409229.7:c.670C>T ENSP00000386620.3:p.Gln224Ter
ENST00000409387.5:c.670C>T ENSP00000387308.1:p.Gln224Ter
ENST00000409741.5:c.670C>T ENSP00000386954.1:p.Gln224Ter
ENST00000410056.7:c.670C>T ENSP00000387337.3:p.Gln224Ter
ENST00000611973.4:c.670C>T ENSP00000483618.1:p.Gln224Ter
ENST00000649044.1:c.*681C>T ENSP00000497083.1:n.*681C>T
XM_011533047.1:c.670C>T XP_011531349.1:p.Gln224Ter
XM_011533047.3:c.670C>T XP_011531349.1:p.Gln224Ter