Canonical Allele Identifier: CA395755143

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500272A>T (hg19) ; chr16:g.31488951A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488951A>T , CM000678.2:g.31488951A>T	GRCh38
NC_000016.9:g.31500272A>T , CM000678.1:g.31500272A>T	GRCh37
NC_000016.8:g.31407773A>T	NCBI36
NG_012892.1:g.10834A>T
NG_033149.1:g.24469T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1352A>T MANE Select	ENSP00000327943.3:p.Gln451Leu
ENST00000330498.3:c.1352A>T	ENSP00000327943.3:p.Gln451Leu
ENST00000419665.6:c.1130-172A>T	ENSP00000410601.2:n.1130-172A>T
ENST00000568188.1:n.723A>T
ENST00000568891.1:n.282-172A>T
NM_003041.3:c.1352A>T	NP_003032.1:p.Gln451Leu
NR_130783.1:n.1149-172A>T
XM_006721072.2:c.1373A>T	XP_006721135.2:p.Gln458Leu
XM_006721073.2:c.1302-172A>T	XP_006721136.2:n.1302-172A>T
XM_006721072.4:c.1373A>T	XP_006721135.2:p.Gln458Leu
XM_024450402.1:c.1151-172A>T	XP_024306170.1:n.1151-172A>T
NM_003041.4:c.1352A>T MANE Select	NP_003032.1:p.Gln451Leu
NR_130783.2:n.1144-172A>T