Canonical Allele Identifier: CA360810088
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2075336
ClinVar RCV Id: RCV002967646

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393813T>G , CM000667.2:g.132393813T>G GRCh38
NC_000005.9:g.131729505T>G , CM000667.1:g.131729505T>G GRCh37
NC_000005.8:g.131757404T>G NCBI36
NG_008982.1:g.29105T>G
NG_008982.2:g.29110T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-372T>G ENSP00000388838.2:n.1292-372T>G
ENST00000435065.7:c.1658+2T>G ENSP00000402760.2:n.1658+2T>G
ENST00000448810.6:c.*438+2T>G ENSP00000401860.2:n.*438+2T>G
ENST00000685543.1:n.1727+2T>G
ENST00000686757.1:c.*750+2T>G ENSP00000510721.1:n.*750+2T>G
ENST00000686868.1:n.578+2T>G
ENST00000687740.1:n.4271+2T>G
ENST00000688151.1:n.2896+2T>G
ENST00000689271.1:c.1433+2T>G ENSP00000510797.1:n.1433+2T>G
ENST00000690900.1:c.*750+2T>G ENSP00000510703.1:n.*750+2T>G
ENST00000692212.1:n.4726+2T>G
ENST00000692355.1:c.839+2T>G
ENST00000692413.1:c.1568+2T>G ENSP00000509374.1:n.1568+2T>G
ENST00000692825.1:c.1654+2T>G ENSP00000509447.1:n.1654+2T>G
ENST00000693308.1:c.1634+2T>G ENSP00000509770.1:n.1634+2T>G
ENST00000693763.1:n.2746+2T>G
ENST00000245407.8:c.1586+2T>G MANE Select ENSP00000245407.3:n.1586+2T>G
ENST00000245407.7:c.1586+2T>G ENSP00000245407.3:n.1586+2T>G
ENST00000435065.6:c.1658+2T>G ENSP00000402760.2:n.1658+2T>G
ENST00000447841.5:c.430+2T>G
ENST00000448810.5:c.850T>G
ENST00000461013.5:n.9008+2T>G
ENST00000475308.1:n.2264+2T>G
NM_001308122.1:c.1658+2T>G NP_001295051.1:n.1658+2T>G
NM_003060.3:c.1586+2T>G NP_003051.1:n.1586+2T>G
XM_011543590.1:c.968+2T>G XP_011541892.1:n.968+2T>G
XR_948290.1:n.1712+2T>G
XM_011543590.2:c.968+2T>G XP_011541892.1:n.968+2T>G
XM_017009778.2:c.1058+2T>G XP_016865267.1:n.1058+2T>G
XR_001742215.1:n.1841+2T>G
XR_001742216.1:n.1860+2T>G
XR_427718.2:n.1946+2T>G
XR_948290.2:n.1712+2T>G
XR_948291.2:n.1940+2T>G
NM_003060.4:c.1586+2T>G MANE Select NP_003051.1:n.1586+2T>G
NM_001308122.2:c.1658+2T>G NP_001295051.1:n.1658+2T>G