Canonical Allele Identifier: CA494936427

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500360T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489039T>A , CM000678.2:g.31489039T>A	GRCh38
NC_000016.9:g.31500360T>A , CM000678.1:g.31500360T>A	GRCh37
NC_000016.8:g.31407861T>A	NCBI36
NG_012892.1:g.10922T>A
NG_033149.1:g.24381A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1440T>A MANE Select	ENSP00000327943.3:p.Val480=
ENST00000330498.3:c.1440T>A	ENSP00000327943.3:p.Val480=
ENST00000419665.6:c.1130-84T>A	ENSP00000410601.2:n.1130-84T>A
ENST00000568188.1:n.811T>A
ENST00000568891.1:n.282-84T>A
NM_003041.3:c.1440T>A	NP_003032.1:p.Val480=
NR_130783.1:n.1149-84T>A
XM_006721072.2:c.1461T>A	XP_006721135.2:p.Val487=
XM_006721073.2:c.1302-84T>A	XP_006721136.2:n.1302-84T>A
XM_006721072.4:c.1461T>A	XP_006721135.2:p.Val487=
XM_024450402.1:c.1151-84T>A	XP_024306170.1:n.1151-84T>A
NM_003041.4:c.1440T>A MANE Select	NP_003032.1:p.Val480=
NR_130783.2:n.1144-84T>A