Canonical Allele Identifier: CA395755261
Gene: SLC5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31488995C>G , CM000678.2:g.31488995C>G GRCh38
NC_000016.9:g.31500316C>G , CM000678.1:g.31500316C>G GRCh37
NC_000016.8:g.31407817C>G NCBI36
NG_012892.1:g.10878C>G
NG_033149.1:g.24425G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330498.4:c.1396C>G MANE Select ENSP00000327943.3:p.Pro466Ala
ENST00000330498.3:c.1396C>G ENSP00000327943.3:p.Pro466Ala
ENST00000419665.6:c.1130-128C>G ENSP00000410601.2:n.1130-128C>G
ENST00000568188.1:n.767C>G
ENST00000568891.1:n.282-128C>G
NM_003041.3:c.1396C>G NP_003032.1:p.Pro466Ala
NR_130783.1:n.1149-128C>G
XM_006721072.2:c.1417C>G XP_006721135.2:p.Pro473Ala
XM_006721073.2:c.1302-128C>G XP_006721136.2:n.1302-128C>G
XM_006721072.4:c.1417C>G XP_006721135.2:p.Pro473Ala
XM_024450402.1:c.1151-128C>G XP_024306170.1:n.1151-128C>G
NM_003041.4:c.1396C>G MANE Select NP_003032.1:p.Pro466Ala
NR_130783.2:n.1144-128C>G