Canonical Allele Identifier: CA395755329

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500344T>A (hg19) ; chr16:g.31489023T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489023T>A , CM000678.2:g.31489023T>A	GRCh38
NC_000016.9:g.31500344T>A , CM000678.1:g.31500344T>A	GRCh37
NC_000016.8:g.31407845T>A	NCBI36
NG_012892.1:g.10906T>A
NG_033149.1:g.24397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1424T>A MANE Select	ENSP00000327943.3:p.Leu475His
ENST00000330498.3:c.1424T>A	ENSP00000327943.3:p.Leu475His
ENST00000419665.6:c.1130-100T>A	ENSP00000410601.2:n.1130-100T>A
ENST00000568188.1:n.795T>A
ENST00000568891.1:n.282-100T>A
NM_003041.3:c.1424T>A	NP_003032.1:p.Leu475His
NR_130783.1:n.1149-100T>A
XM_006721072.2:c.1445T>A	XP_006721135.2:p.Leu482His
XM_006721073.2:c.1302-100T>A	XP_006721136.2:n.1302-100T>A
XM_006721072.4:c.1445T>A	XP_006721135.2:p.Leu482His
XM_024450402.1:c.1151-100T>A	XP_024306170.1:n.1151-100T>A
NM_003041.4:c.1424T>A MANE Select	NP_003032.1:p.Leu475His
NR_130783.2:n.1144-100T>A