Canonical Allele Identifier: CA14234178
Gene: SLC7A5 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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