Canonical Allele Identifier: CA1571465

Gene: SLC5A6

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27201768G>A , CM000664.2:g.27201768G>A	GRCh38
NC_000002.11:g.27424636G>A , CM000664.1:g.27424636G>A	GRCh37
NC_000002.10:g.27278140G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310574.8:c.1442C>T MANE Select	ENSP00000310208.3:p.Ser481Phe
ENST00000310574.7:c.1442C>T	ENSP00000310208.3:p.Ser481Phe
ENST00000408041.5:c.1442C>T	ENSP00000384853.1:p.Ser481Phe
ENST00000461319.5:n.380C>T
ENST00000461757.1:n.544C>T
ENST00000481751.5:n.471C>T
ENST00000488743.6:n.2128C>T
ENST00000492069.5:n.649C>T
NM_021095.2:c.1442C>T	NP_066918.2:p.Ser481Phe
NR_028323.1:n.2289C>T
XM_006712128.1:c.1442C>T	XP_006712191.1:p.Ser481Phe
XM_006712129.1:c.1442C>T	XP_006712192.1:p.Ser481Phe
XM_006712130.1:c.1442C>T	XP_006712193.1:p.Ser481Phe
XM_011533144.1:c.1442C>T	XP_011531446.1:p.Ser481Phe
XM_011533145.1:c.1442C>T	XP_011531447.1:p.Ser481Phe
XM_011533146.1:c.773C>T	XP_011531448.1:p.Ser258Phe
XR_939737.1:n.2289C>T
XM_006712128.2:c.1442C>T	XP_006712191.1:p.Ser481Phe
XM_011533146.3:c.773C>T	XP_011531448.1:p.Ser258Phe
XM_017005216.1:c.815C>T	XP_016860705.1:p.Ser272Phe
XM_024453206.1:c.1442C>T	XP_024308974.1:p.Ser481Phe
XM_024453207.1:c.1442C>T	XP_024308975.1:p.Ser481Phe
XR_001739022.1:n.1738C>T
XR_001739023.1:n.1668C>T
XR_001739024.2:n.1735C>T
XR_001739025.2:n.1674C>T
XR_002959356.1:n.1972C>T
XR_002959357.1:n.1907C>T
XR_002959358.1:n.1907C>T
NM_021095.3:c.1442C>T	NP_066918.2:p.Ser481Phe
NM_021095.4:c.1442C>T MANE Select	NP_066918.2:p.Ser481Phe
NR_028323.2:n.2250C>T