Canonical Allele Identifier: CA2494200052
Gene: SLC3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44286074C= , CM000664.2:g.44286074C= GRCh38
NC_000002.11:g.44513213C= , CM000664.1:g.44513213C= GRCh37
NC_000002.10:g.44366717C= NCBI36
NG_008233.1:g.15617C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260649.11:c.808C= MANE Select ENSP00000260649.6:p.Arg270=
ENST00000649044.1:c.*819C= ENSP00000497083.1:n.*819C=
ENST00000260649.10:c.808C= ENSP00000260649.6:p.Arg270=
ENST00000409229.7:c.808C= ENSP00000386620.3:p.Arg270=
ENST00000409380.5:c.-27C= ENSP00000386709.1:n.-27C=
ENST00000409387.5:c.808C= ENSP00000387308.1:p.Arg270=
ENST00000409741.5:c.808C= ENSP00000386954.1:p.Arg270=
ENST00000410056.7:c.808C= ENSP00000387337.3:p.Arg270=
ENST00000427285.1:c.142C= ENSP00000391642.1:p.Arg48=
ENST00000611973.4:c.808C= ENSP00000483618.1:p.Arg270=
NM_000341.3:c.808C= NP_000332.2:p.Arg270=
XM_011533047.1:c.808C= XP_011531349.1:p.Arg270=
XM_011533047.3:c.808C= XP_011531349.1:p.Arg270=
NM_000341.4:c.808C= MANE Select NP_000332.2:p.Arg270=