Canonical Allele Identifier: CA395755383

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500362A>G (hg19) ; chr16:g.31489041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489041A>G , CM000678.2:g.31489041A>G	GRCh38
NC_000016.9:g.31500362A>G , CM000678.1:g.31500362A>G	GRCh37
NC_000016.8:g.31407863A>G	NCBI36
NG_012892.1:g.10924A>G
NG_033149.1:g.24379T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1442A>G MANE Select	ENSP00000327943.3:p.Asn481Ser
ENST00000330498.3:c.1442A>G	ENSP00000327943.3:p.Asn481Ser
ENST00000419665.6:c.1130-82A>G	ENSP00000410601.2:n.1130-82A>G
ENST00000568188.1:n.813A>G
ENST00000568891.1:n.282-82A>G
NM_003041.3:c.1442A>G	NP_003032.1:p.Asn481Ser
NR_130783.1:n.1149-82A>G
XM_006721072.2:c.1463A>G	XP_006721135.2:p.Asn488Ser
XM_006721073.2:c.1302-82A>G	XP_006721136.2:n.1302-82A>G
XM_006721072.4:c.1463A>G	XP_006721135.2:p.Asn488Ser
XM_024450402.1:c.1151-82A>G	XP_024306170.1:n.1151-82A>G
NM_003041.4:c.1442A>G MANE Select	NP_003032.1:p.Asn481Ser
NR_130783.2:n.1144-82A>G