Canonical Allele Identifier: CA8222777
Gene: SLC7A5 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261622.5:c.1124C>T MANE Select ENSP00000261622.4:p.Pro375Leu
ENST00000261622.4:c.1124C>T ENSP00000261622.4:p.Pro375Leu
ENST00000565644.5:c.326C>T ENSP00000454323.1:p.Pro109Leu
NM_003486.5:c.1124C>T NP_003477.4:p.Pro375Leu
XM_006721286.2:c.605C>T XP_006721349.1:p.Pro202Leu
XM_011523354.1:c.998C>T XP_011521656.1:p.Pro333Leu
XM_011523355.1:c.593C>T XP_011521657.1:p.Pro198Leu
NM_003486.6:c.1124C>T NP_003477.4:p.Pro375Leu
XM_006721286.3:c.659C>T XP_006721349.2:p.Pro220Leu
XM_017023735.1:c.1124C>T XP_016879224.1:p.Pro375Leu
XM_017023736.1:c.998C>T XP_016879225.1:p.Pro333Leu
XM_017023737.2:c.593C>T XP_016879226.1:p.Pro198Leu
NM_003486.7:c.1124C>T MANE Select NP_003477.4:p.Pro375Leu
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