Canonical Allele Identifier: CA2240719226
Community Standard Title: NM_003486.7(SLC7A5):c.1124C= (p.Pro375=)
Gene: SLC7A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87837861G= , CM000678.2:g.87837861G= GRCh38
NC_000016.9:g.87871467G= , CM000678.1:g.87871467G= GRCh37
NC_000016.8:g.86428968G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003486.7:c.1124C= MANE Select NP_003477.4:p.Pro375=
ENST00000261622.5:c.1124C= MANE Select ENSP00000261622.4:p.Pro375=
NM_003486.5:c.1124C= NP_003477.4:p.Pro375=
NM_003486.6:c.1124C= NP_003477.4:p.Pro375=
ENST00000261622.4:c.1124C= ENSP00000261622.4:p.Pro375=
ENST00000565644.5:c.326C= ENSP00000454323.1:p.Pro109=
XM_006721286.2:c.605C= XP_006721349.1:p.Pro202=
XM_006721286.3:c.659C= XP_006721349.2:p.Pro220=
XM_011523354.1:c.998C= XP_011521656.1:p.Pro333=
XM_011523355.1:c.593C= XP_011521657.1:p.Pro198=
XM_017023735.1:c.1124C= XP_016879224.1:p.Pro375=
XM_017023736.1:c.998C= XP_016879225.1:p.Pro333=
XM_017023737.2:c.593C= XP_016879226.1:p.Pro198=