Canonical Allele Identifier: CA395755190
Gene: SLC5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31488965A>T , CM000678.2:g.31488965A>T GRCh38
NC_000016.9:g.31500286A>T , CM000678.1:g.31500286A>T GRCh37
NC_000016.8:g.31407787A>T NCBI36
NG_012892.1:g.10848A>T
NG_033149.1:g.24455T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330498.4:c.1366A>T MANE Select ENSP00000327943.3:p.Ile456Phe
ENST00000330498.3:c.1366A>T ENSP00000327943.3:p.Ile456Phe
ENST00000419665.6:c.1130-158A>T ENSP00000410601.2:n.1130-158A>T
ENST00000568188.1:n.737A>T
ENST00000568891.1:n.282-158A>T
NM_003041.3:c.1366A>T NP_003032.1:p.Ile456Phe
NR_130783.1:n.1149-158A>T
XM_006721072.2:c.1387A>T XP_006721135.2:p.Ile463Phe
XM_006721073.2:c.1302-158A>T XP_006721136.2:n.1302-158A>T
XM_006721072.4:c.1387A>T XP_006721135.2:p.Ile463Phe
XM_024450402.1:c.1151-158A>T XP_024306170.1:n.1151-158A>T
NM_003041.4:c.1366A>T MANE Select NP_003032.1:p.Ile456Phe
NR_130783.2:n.1144-158A>T