Canonical Allele Identifier: CA395755339

Gene: SLC5A2

Linked Data

• dbSNP Id: rs1228607965
• gnomAD v2: 16-31500347-T-C
• gnomAD v3: 16-31489026-T-C
• gnomAD v4: 16-31489026-T-C
• MyVariant Identifiers: chr16:g.31500347T>C (hg19) ; chr16:g.31489026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489026T>C , CM000678.2:g.31489026T>C	GRCh38
NC_000016.9:g.31500347T>C , CM000678.1:g.31500347T>C	GRCh37
NC_000016.8:g.31407848T>C	NCBI36
NG_012892.1:g.10909T>C
NG_033149.1:g.24394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1427T>C MANE Select	ENSP00000327943.3:p.Phe476Ser
ENST00000330498.3:c.1427T>C	ENSP00000327943.3:p.Phe476Ser
ENST00000419665.6:c.1130-97T>C	ENSP00000410601.2:n.1130-97T>C
ENST00000568188.1:n.798T>C
ENST00000568891.1:n.282-97T>C
NM_003041.3:c.1427T>C	NP_003032.1:p.Phe476Ser
NR_130783.1:n.1149-97T>C
XM_006721072.2:c.1448T>C	XP_006721135.2:p.Phe483Ser
XM_006721073.2:c.1302-97T>C	XP_006721136.2:n.1302-97T>C
XM_006721072.4:c.1448T>C	XP_006721135.2:p.Phe483Ser
XM_024450402.1:c.1151-97T>C	XP_024306170.1:n.1151-97T>C
NM_003041.4:c.1427T>C MANE Select	NP_003032.1:p.Phe476Ser
NR_130783.2:n.1144-97T>C