Canonical Allele Identifier: CA8031119

Gene: SLC5A2

Linked Data

• dbSNP Id: rs764491154
• ExAC: 16:31500291 G / A
• gnomAD v2: 16-31500291-G-A
• gnomAD v3: 16-31488970-G-A
• gnomAD v4: 16-31488970-G-A
• MyVariant Identifiers: chr16:g.31500291G>A (hg19) ; chr16:g.31488970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488970G>A , CM000678.2:g.31488970G>A	GRCh38
NC_000016.9:g.31500291G>A , CM000678.1:g.31500291G>A	GRCh37
NC_000016.8:g.31407792G>A	NCBI36
NG_012892.1:g.10853G>A
NG_033149.1:g.24450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1371G>A MANE Select	ENSP00000327943.3:p.Gln457=
ENST00000330498.3:c.1371G>A	ENSP00000327943.3:p.Gln457=
ENST00000419665.6:c.1130-153G>A	ENSP00000410601.2:n.1130-153G>A
ENST00000568188.1:n.742G>A
ENST00000568891.1:n.282-153G>A
NM_003041.3:c.1371G>A	NP_003032.1:p.Gln457=
NR_130783.1:n.1149-153G>A
XM_006721072.2:c.1392G>A	XP_006721135.2:p.Gln464=
XM_006721073.2:c.1302-153G>A	XP_006721136.2:n.1302-153G>A
XM_006721072.4:c.1392G>A	XP_006721135.2:p.Gln464=
XM_024450402.1:c.1151-153G>A	XP_024306170.1:n.1151-153G>A
NM_003041.4:c.1371G>A MANE Select	NP_003032.1:p.Gln457=
NR_130783.2:n.1144-153G>A