Canonical Allele Identifier: CA395755220

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31488974-G-T
• MyVariant Identifiers: chr16:g.31500295G>T (hg19) ; chr16:g.31488974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488974G>T , CM000678.2:g.31488974G>T	GRCh38
NC_000016.9:g.31500295G>T , CM000678.1:g.31500295G>T	GRCh37
NC_000016.8:g.31407796G>T	NCBI36
NG_012892.1:g.10857G>T
NG_033149.1:g.24446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1375G>T MANE Select	ENSP00000327943.3:p.Val459Phe
ENST00000330498.3:c.1375G>T	ENSP00000327943.3:p.Val459Phe
ENST00000419665.6:c.1130-149G>T	ENSP00000410601.2:n.1130-149G>T
ENST00000568188.1:n.746G>T
ENST00000568891.1:n.282-149G>T
NM_003041.3:c.1375G>T	NP_003032.1:p.Val459Phe
NR_130783.1:n.1149-149G>T
XM_006721072.2:c.1396G>T	XP_006721135.2:p.Val466Phe
XM_006721073.2:c.1302-149G>T	XP_006721136.2:n.1302-149G>T
XM_006721072.4:c.1396G>T	XP_006721135.2:p.Val466Phe
XM_024450402.1:c.1151-149G>T	XP_024306170.1:n.1151-149G>T
NM_003041.4:c.1375G>T MANE Select	NP_003032.1:p.Val459Phe
NR_130783.2:n.1144-149G>T