Canonical Allele Identifier: CA494936196
Gene: SLC5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.31500288C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31488967C>A , CM000678.2:g.31488967C>A GRCh38
NC_000016.9:g.31500288C>A , CM000678.1:g.31500288C>A GRCh37
NC_000016.8:g.31407789C>A NCBI36
NG_012892.1:g.10850C>A
NG_033149.1:g.24453G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330498.4:c.1368C>A MANE Select ENSP00000327943.3:p.Ile456=
ENST00000330498.3:c.1368C>A ENSP00000327943.3:p.Ile456=
ENST00000419665.6:c.1130-156C>A ENSP00000410601.2:n.1130-156C>A
ENST00000568188.1:n.739C>A
ENST00000568891.1:n.282-156C>A
NM_003041.3:c.1368C>A NP_003032.1:p.Ile456=
NR_130783.1:n.1149-156C>A
XM_006721072.2:c.1389C>A XP_006721135.2:p.Ile463=
XM_006721073.2:c.1302-156C>A XP_006721136.2:n.1302-156C>A
XM_006721072.4:c.1389C>A XP_006721135.2:p.Ile463=
XM_024450402.1:c.1151-156C>A XP_024306170.1:n.1151-156C>A
NM_003041.4:c.1368C>A MANE Select NP_003032.1:p.Ile456=
NR_130783.2:n.1144-156C>A