Canonical Allele Identifier: CA2578402040
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385245T>C , CM000667.2:g.132385245T>C GRCh38
NC_000005.9:g.131720937T>C , CM000667.1:g.131720937T>C GRCh37
NC_000005.8:g.131748836T>C NCBI36
NG_008982.1:g.20537T>C
NG_008982.2:g.20542T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+931T>C ENSP00000388838.2:n.665+931T>C
ENST00000435065.7:c.725-83T>C ENSP00000402760.2:n.725-83T>C
ENST00000448810.6:c.653-83T>C ENSP00000401860.2:n.653-83T>C
ENST00000686757.1:c.672-83T>C ENSP00000510721.1:n.672-83T>C
ENST00000687740.1:n.1730T>C
ENST00000688151.1:n.1845-83T>C
ENST00000689271.1:c.671+925T>C ENSP00000510797.1:n.671+925T>C
ENST00000690900.1:c.672-131T>C ENSP00000510703.1:n.672-131T>C
ENST00000692212.1:n.396T>C
ENST00000692355.1:c.204+944T>C
ENST00000692413.1:c.672-83T>C ENSP00000509374.1:n.672-83T>C
ENST00000692825.1:c.721-83T>C ENSP00000509447.1:n.721-83T>C
ENST00000693308.1:c.666-83T>C ENSP00000509770.1:n.666-83T>C
ENST00000693763.1:n.1730T>C
ENST00000245407.8:c.653-83T>C MANE Select ENSP00000245407.3:n.653-83T>C
ENST00000245407.7:c.653-83T>C ENSP00000245407.3:n.653-83T>C
ENST00000415928.5:c.422-83T>C ENSP00000388838.1:n.422-83T>C
ENST00000435065.6:c.725-83T>C ENSP00000402760.2:n.725-83T>C
ENST00000437841.6:c.394-83T>C ENSP00000400553.1:n.394-83T>C
ENST00000461013.5:n.8075-83T>C
NM_001308122.1:c.725-83T>C NP_001295051.1:n.725-83T>C
NM_003060.3:c.653-83T>C NP_003051.1:n.653-83T>C
XM_011543590.1:c.35-83T>C XP_011541892.1:n.35-83T>C
XR_427718.1:n.1013-83T>C
XR_948290.1:n.994-83T>C
XR_948291.1:n.1007-83T>C
XM_011543590.2:c.35-83T>C XP_011541892.1:n.35-83T>C
XM_017009778.2:c.125-83T>C XP_016865267.1:n.125-83T>C
XR_001742215.1:n.994-83T>C
XR_001742216.1:n.1013-83T>C
XR_427718.2:n.1013-83T>C
XR_948290.2:n.994-83T>C
XR_948291.2:n.1007-83T>C
NM_003060.4:c.653-83T>C MANE Select NP_003051.1:n.653-83T>C
NM_001308122.2:c.725-83T>C NP_001295051.1:n.725-83T>C