Canonical Allele Identifier: CA494936185

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500261A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488940A>T , CM000678.2:g.31488940A>T	GRCh38
NC_000016.9:g.31500261A>T , CM000678.1:g.31500261A>T	GRCh37
NC_000016.8:g.31407762A>T	NCBI36
NG_012892.1:g.10823A>T
NG_033149.1:g.24480T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1341A>T MANE Select	ENSP00000327943.3:p.Ala447=
ENST00000330498.3:c.1341A>T	ENSP00000327943.3:p.Ala447=
ENST00000419665.6:c.1130-183A>T	ENSP00000410601.2:n.1130-183A>T
ENST00000568188.1:n.712A>T
ENST00000568891.1:n.282-183A>T
NM_003041.3:c.1341A>T	NP_003032.1:p.Ala447=
NR_130783.1:n.1149-183A>T
XM_006721072.2:c.1362A>T	XP_006721135.2:p.Ala454=
XM_006721073.2:c.1301+168A>T	XP_006721136.2:n.1301+168A>T
XM_006721072.4:c.1362A>T	XP_006721135.2:p.Ala454=
XM_024450402.1:c.1151-183A>T	XP_024306170.1:n.1151-183A>T
NM_003041.4:c.1341A>T MANE Select	NP_003032.1:p.Ala447=
NR_130783.2:n.1144-183A>T