Canonical Allele Identifier: CA2240723325
Community Standard Title: NM_003486.7(SLC7A5):c.665-4061C=
Gene: SLC7A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87845216G= , CM000678.2:g.87845216G= GRCh38
NC_000016.9:g.87878822G= , CM000678.1:g.87878822G= GRCh37
NC_000016.8:g.86436323G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003486.7:c.665-4061C= MANE Select NP_003477.4:n.665-4061C=
ENST00000261622.5:c.665-4061C= MANE Select ENSP00000261622.4:n.665-4061C=
NM_003486.5:c.665-4061C= NP_003477.4:n.665-4061C=
NM_003486.6:c.665-4061C= NP_003477.4:n.665-4061C=
ENST00000261622.4:c.665-4061C= ENSP00000261622.4:n.665-4061C=
ENST00000565644.5:c.-134-4061C= ENSP00000454323.1:n.-134-4061C=
XM_006721286.2:c.146-4061C= XP_006721349.1:n.146-4061C=
XM_006721286.3:c.200-4061C= XP_006721349.2:n.200-4061C=
XM_011523354.1:c.539-4061C= XP_011521656.1:n.539-4061C=
XM_011523355.1:c.134-4061C= XP_011521657.1:n.134-4061C=
XM_017023735.1:c.665-4061C= XP_016879224.1:n.665-4061C=
XM_017023736.1:c.539-4061C= XP_016879225.1:n.539-4061C=
XM_017023737.2:c.134-4061C= XP_016879226.1:n.134-4061C=