Canonical Allele Identifier: CA395755194

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31488966-T-A
• MyVariant Identifiers: chr16:g.31500287T>A (hg19) ; chr16:g.31488966T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488966T>A , CM000678.2:g.31488966T>A	GRCh38
NC_000016.9:g.31500287T>A , CM000678.1:g.31500287T>A	GRCh37
NC_000016.8:g.31407788T>A	NCBI36
NG_012892.1:g.10849T>A
NG_033149.1:g.24454A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1367T>A MANE Select	ENSP00000327943.3:p.Ile456Asn
ENST00000330498.3:c.1367T>A	ENSP00000327943.3:p.Ile456Asn
ENST00000419665.6:c.1130-157T>A	ENSP00000410601.2:n.1130-157T>A
ENST00000568188.1:n.738T>A
ENST00000568891.1:n.282-157T>A
NM_003041.3:c.1367T>A	NP_003032.1:p.Ile456Asn
NR_130783.1:n.1149-157T>A
XM_006721072.2:c.1388T>A	XP_006721135.2:p.Ile463Asn
XM_006721073.2:c.1302-157T>A	XP_006721136.2:n.1302-157T>A
XM_006721072.4:c.1388T>A	XP_006721135.2:p.Ile463Asn
XM_024450402.1:c.1151-157T>A	XP_024306170.1:n.1151-157T>A
NM_003041.4:c.1367T>A MANE Select	NP_003032.1:p.Ile456Asn
NR_130783.2:n.1144-157T>A