Canonical Allele Identifier: CA395755276

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31489002-C-T
• MyVariant Identifiers: chr16:g.31500323C>T (hg19) ; chr16:g.31489002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489002C>T , CM000678.2:g.31489002C>T	GRCh38
NC_000016.9:g.31500323C>T , CM000678.1:g.31500323C>T	GRCh37
NC_000016.8:g.31407824C>T	NCBI36
NG_012892.1:g.10885C>T
NG_033149.1:g.24418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1403C>T MANE Select	ENSP00000327943.3:p.Ser468Phe
ENST00000330498.3:c.1403C>T	ENSP00000327943.3:p.Ser468Phe
ENST00000419665.6:c.1130-121C>T	ENSP00000410601.2:n.1130-121C>T
ENST00000568188.1:n.774C>T
ENST00000568891.1:n.282-121C>T
NM_003041.3:c.1403C>T	NP_003032.1:p.Ser468Phe
NR_130783.1:n.1149-121C>T
XM_006721072.2:c.1424C>T	XP_006721135.2:p.Ser475Phe
XM_006721073.2:c.1302-121C>T	XP_006721136.2:n.1302-121C>T
XM_006721072.4:c.1424C>T	XP_006721135.2:p.Ser475Phe
XM_024450402.1:c.1151-121C>T	XP_024306170.1:n.1151-121C>T
NM_003041.4:c.1403C>T MANE Select	NP_003032.1:p.Ser468Phe
NR_130783.2:n.1144-121C>T