Canonical Allele Identifier: CA395755285

Gene: SLC5A2

Linked Data

• dbSNP Id: rs1451134374
• gnomAD v4: 16-31489007-G-C
• MyVariant Identifiers: chr16:g.31500328G>C (hg19) ; chr16:g.31489007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489007G>C , CM000678.2:g.31489007G>C	GRCh38
NC_000016.9:g.31500328G>C , CM000678.1:g.31500328G>C	GRCh37
NC_000016.8:g.31407829G>C	NCBI36
NG_012892.1:g.10890G>C
NG_033149.1:g.24413C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1408G>C MANE Select	ENSP00000327943.3:p.Val470Leu
ENST00000330498.3:c.1408G>C	ENSP00000327943.3:p.Val470Leu
ENST00000419665.6:c.1130-116G>C	ENSP00000410601.2:n.1130-116G>C
ENST00000568188.1:n.779G>C
ENST00000568891.1:n.282-116G>C
NM_003041.3:c.1408G>C	NP_003032.1:p.Val470Leu
NR_130783.1:n.1149-116G>C
XM_006721072.2:c.1429G>C	XP_006721135.2:p.Val477Leu
XM_006721073.2:c.1302-116G>C	XP_006721136.2:n.1302-116G>C
XM_006721072.4:c.1429G>C	XP_006721135.2:p.Val477Leu
XM_024450402.1:c.1151-116G>C	XP_024306170.1:n.1151-116G>C
NM_003041.4:c.1408G>C MANE Select	NP_003032.1:p.Val470Leu
NR_130783.2:n.1144-116G>C