Canonical Allele Identifier: CA3085692253

Gene: SLC5A6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27201304T>G , CM000664.2:g.27201304T>G	GRCh38
NC_000002.11:g.27424172T>G , CM000664.1:g.27424172T>G	GRCh37
NC_000002.10:g.27277676T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_021095.4:c.1648+46A>C MANE Select	NP_066918.2:n.1648+46A>C
ENST00000310574.8:c.1648+46A>C MANE Select	ENSP00000310208.3:n.1648+46A>C
NM_021095.2:c.1648+46A>C	NP_066918.2:n.1648+46A>C
NM_021095.3:c.1648+46A>C	NP_066918.2:n.1648+46A>C
NR_028323.1:n.2495+46A>C
NR_028323.2:n.2456+46A>C
ENST00000310574.7:c.1648+46A>C	ENSP00000310208.3:n.1648+46A>C
ENST00000408041.5:c.1648+46A>C	ENSP00000384853.1:n.1648+46A>C
ENST00000461319.5:n.586+46A>C
ENST00000461757.1:n.1008A>C
ENST00000488743.6:n.2334+46A>C
XM_006712128.1:c.1648+46A>C	XP_006712191.1:n.1648+46A>C
XM_006712128.2:c.1648+46A>C	XP_006712191.1:n.1648+46A>C
XM_006712129.1:c.1648+46A>C	XP_006712192.1:n.1648+46A>C
XM_006712130.1:c.1648+46A>C	XP_006712193.1:n.1648+46A>C
XM_011533144.1:c.1544+362A>C	XP_011531446.1:n.1544+362A>C
XM_011533145.1:c.1545-191A>C	XP_011531447.1:n.1545-191A>C
XM_011533146.1:c.979+46A>C	XP_011531448.1:n.979+46A>C
XM_011533146.3:c.979+46A>C	XP_011531448.1:n.979+46A>C
XM_017005216.1:c.1021+46A>C	XP_016860705.1:n.1021+46A>C
XM_024453206.1:c.1544+362A>C	XP_024308974.1:n.1544+362A>C
XM_024453207.1:c.1545-191A>C	XP_024308975.1:n.1545-191A>C
XR_001739022.1:n.1944+46A>C
XR_001739023.1:n.1874+46A>C
XR_001739024.2:n.1941+46A>C
XR_001739025.2:n.1880+46A>C
XR_002959356.1:n.2178+46A>C
XR_002959357.1:n.2009+362A>C
XR_002959358.1:n.2010-191A>C
XR_939737.1:n.2495+46A>C