Canonical Allele Identifier: CA1640008
Community Standard Title: NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)
Gene: SLC3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44275601C>T , CM000664.2:g.44275601C>T GRCh38
NC_000002.11:g.44502740C>T , CM000664.1:g.44502740C>T GRCh37
NC_000002.10:g.44356244C>T NCBI36
NG_008233.1:g.5144C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000341.4:c.66C>T MANE Select NP_000332.2:p.Asn22=
ENST00000260649.11:c.66C>T MANE Select ENSP00000260649.6:p.Asn22=
NM_000341.3:c.66C>T NP_000332.2:p.Asn22=
ENST00000260649.10:c.66C>T ENSP00000260649.6:p.Asn22=
ENST00000409229.7:c.66C>T ENSP00000386620.3:p.Asn22=
ENST00000409387.5:c.66C>T ENSP00000387308.1:p.Asn22=
ENST00000409741.5:c.66C>T ENSP00000386954.1:p.Asn22=
ENST00000410056.7:c.66C>T ENSP00000387337.3:p.Asn22=
ENST00000611973.4:c.66C>T ENSP00000483618.1:p.Asn22=
ENST00000649044.1:c.*77C>T ENSP00000497083.1:n.*77C>T
XM_011533047.1:c.66C>T XP_011531349.1:p.Asn22=
XM_011533047.3:c.66C>T XP_011531349.1:p.Asn22=