Canonical Allele Identifier: CA395755124

Gene: SLC5A2

Linked Data

• ClinVar Variation Id: 522416
• ClinVar RCV Id: RCV000625556
• dbSNP Id: rs773289713
• gnomAD v4: 16-31488944-G-T
• MyVariant Identifiers: chr16:g.31500265G>T (hg19) ; chr16:g.31488944G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488944G>T , CM000678.2:g.31488944G>T	GRCh38
NC_000016.9:g.31500265G>T , CM000678.1:g.31500265G>T	GRCh37
NC_000016.8:g.31407766G>T	NCBI36
NG_012892.1:g.10827G>T
NG_033149.1:g.24476C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1345G>T MANE Select	ENSP00000327943.3:p.Gly449Cys
ENST00000330498.3:c.1345G>T	ENSP00000327943.3:p.Gly449Cys
ENST00000419665.6:c.1130-179G>T	ENSP00000410601.2:n.1130-179G>T
ENST00000568188.1:n.716G>T
ENST00000568891.1:n.282-179G>T
NM_003041.3:c.1345G>T	NP_003032.1:p.Gly449Cys
NR_130783.1:n.1149-179G>T
XM_006721072.2:c.1366G>T	XP_006721135.2:p.Gly456Cys
XM_006721073.2:c.1301+172G>T	XP_006721136.2:n.1301+172G>T
XM_006721072.4:c.1366G>T	XP_006721135.2:p.Gly456Cys
XM_024450402.1:c.1151-179G>T	XP_024306170.1:n.1151-179G>T
NM_003041.4:c.1345G>T MANE Select	NP_003032.1:p.Gly449Cys
NR_130783.2:n.1144-179G>T