Canonical Allele Identifier: CA395755369

Gene: SLC5A2

Linked Data

• dbSNP Id: rs761264242
• gnomAD v3: 16-31489037-G-C
• gnomAD v4: 16-31489037-G-C
• MyVariant Identifiers: chr16:g.31500358G>C (hg19) ; chr16:g.31489037G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489037G>C , CM000678.2:g.31489037G>C	GRCh38
NC_000016.9:g.31500358G>C , CM000678.1:g.31500358G>C	GRCh37
NC_000016.8:g.31407859G>C	NCBI36
NG_012892.1:g.10920G>C
NG_033149.1:g.24383C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1438G>C MANE Select	ENSP00000327943.3:p.Val480Leu
ENST00000330498.3:c.1438G>C	ENSP00000327943.3:p.Val480Leu
ENST00000419665.6:c.1130-86G>C	ENSP00000410601.2:n.1130-86G>C
ENST00000568188.1:n.809G>C
ENST00000568891.1:n.282-86G>C
NM_003041.3:c.1438G>C	NP_003032.1:p.Val480Leu
NR_130783.1:n.1149-86G>C
XM_006721072.2:c.1459G>C	XP_006721135.2:p.Val487Leu
XM_006721073.2:c.1302-86G>C	XP_006721136.2:n.1302-86G>C
XM_006721072.4:c.1459G>C	XP_006721135.2:p.Val487Leu
XM_024450402.1:c.1151-86G>C	XP_024306170.1:n.1151-86G>C
NM_003041.4:c.1438G>C MANE Select	NP_003032.1:p.Val480Leu
NR_130783.2:n.1144-86G>C