Canonical Allele Identifier: CA395755201

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31488968-C-A
• MyVariant Identifiers: chr16:g.31500289C>A (hg19) ; chr16:g.31488968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488968C>A , CM000678.2:g.31488968C>A	GRCh38
NC_000016.9:g.31500289C>A , CM000678.1:g.31500289C>A	GRCh37
NC_000016.8:g.31407790C>A	NCBI36
NG_012892.1:g.10851C>A
NG_033149.1:g.24452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1369C>A MANE Select	ENSP00000327943.3:p.Gln457Lys
ENST00000330498.3:c.1369C>A	ENSP00000327943.3:p.Gln457Lys
ENST00000419665.6:c.1130-155C>A	ENSP00000410601.2:n.1130-155C>A
ENST00000568188.1:n.740C>A
ENST00000568891.1:n.282-155C>A
NM_003041.3:c.1369C>A	NP_003032.1:p.Gln457Lys
NR_130783.1:n.1149-155C>A
XM_006721072.2:c.1390C>A	XP_006721135.2:p.Gln464Lys
XM_006721073.2:c.1302-155C>A	XP_006721136.2:n.1302-155C>A
XM_006721072.4:c.1390C>A	XP_006721135.2:p.Gln464Lys
XM_024450402.1:c.1151-155C>A	XP_024306170.1:n.1151-155C>A
NM_003041.4:c.1369C>A MANE Select	NP_003032.1:p.Gln457Lys
NR_130783.2:n.1144-155C>A