Canonical Allele Identifier: CA2697546470
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746229
ClinVar RCV Id: RCV003506892

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132378489G>A , CM000667.2:g.132378489G>A GRCh38
NC_000005.9:g.131714181G>A , CM000667.1:g.131714181G>A GRCh37
NC_000005.8:g.131742080G>A NCBI36
NG_008982.1:g.13781G>A
NG_008982.2:g.13786G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.497+8G>A ENSP00000388838.2:n.497+8G>A
ENST00000435065.7:c.569+8G>A ENSP00000402760.2:n.569+8G>A
ENST00000448810.6:c.497+8G>A ENSP00000401860.2:n.497+8G>A
ENST00000686757.1:c.497+8G>A ENSP00000510721.1:n.497+8G>A
ENST00000687740.1:n.631+8G>A
ENST00000689271.1:c.497+8G>A ENSP00000510797.1:n.497+8G>A
ENST00000690900.1:c.497+8G>A ENSP00000510703.1:n.497+8G>A
ENST00000692355.1:c.49+8G>A
ENST00000692413.1:c.497+8G>A ENSP00000509374.1:n.497+8G>A
ENST00000692825.1:c.565+8G>A ENSP00000509447.1:n.565+8G>A
ENST00000693308.1:c.497+8G>A ENSP00000509770.1:n.497+8G>A
ENST00000693763.1:n.631+8G>A
ENST00000245407.8:c.497+8G>A MANE Select ENSP00000245407.3:n.497+8G>A
ENST00000245407.7:c.497+8G>A ENSP00000245407.3:n.497+8G>A
ENST00000415928.5:c.266+8G>A ENSP00000388838.1:n.266+8G>A
ENST00000435065.6:c.569+8G>A ENSP00000402760.2:n.569+8G>A
ENST00000437841.6:c.394-6839G>A ENSP00000400553.1:n.394-6839G>A
ENST00000461013.5:n.2262G>A
NM_001308122.1:c.569+8G>A NP_001295051.1:n.569+8G>A
NM_003060.3:c.497+8G>A NP_003051.1:n.497+8G>A
XR_427718.1:n.838+8G>A
XR_948290.1:n.838+8G>A
XR_948291.1:n.838+8G>A
XM_011543590.2:c.-135+8G>A XP_011541892.1:n.-135+8G>A
XM_017009778.2:c.-31-5658G>A XP_016865267.1:n.-31-5658G>A
XR_001742215.1:n.838+8G>A
XR_001742216.1:n.838+8G>A
XR_427718.2:n.838+8G>A
XR_948290.2:n.838+8G>A
XR_948291.2:n.838+8G>A
NM_003060.4:c.497+8G>A MANE Select NP_003051.1:n.497+8G>A
NM_001308122.2:c.569+8G>A NP_001295051.1:n.569+8G>A