Canonical Allele Identifier: CA3404214
Gene: SLC22A5 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132394174T>G , CM000667.2:g.132394174T>G GRCh38
NC_000005.9:g.131729866T>G , CM000667.1:g.131729866T>G GRCh37
NC_000005.8:g.131757765T>G NCBI36
NG_008982.1:g.29466T>G
NG_008982.2:g.29471T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-11T>G ENSP00000388838.2:n.1292-11T>G
ENST00000435065.7:c.1659-11T>G ENSP00000402760.2:n.1659-11T>G
ENST00000448810.6:c.*439-11T>G ENSP00000401860.2:n.*439-11T>G
ENST00000685543.1:n.1728-11T>G
ENST00000686757.1:c.*751-11T>G ENSP00000510721.1:n.*751-11T>G
ENST00000686868.1:n.579-11T>G
ENST00000687740.1:n.4272-11T>G
ENST00000688151.1:n.2897-11T>G
ENST00000689271.1:c.1434-11T>G ENSP00000510797.1:n.1434-11T>G
ENST00000690900.1:c.*751-11T>G ENSP00000510703.1:n.*751-11T>G
ENST00000692212.1:n.4727-11T>G
ENST00000692355.1:c.840-11T>G
ENST00000692413.1:c.1569-11T>G ENSP00000509374.1:n.1569-11T>G
ENST00000692825.1:c.1655-11T>G ENSP00000509447.1:n.1655-11T>G
ENST00000693308.1:c.1635-11T>G ENSP00000509770.1:n.1635-11T>G
ENST00000693763.1:n.2747-11T>G
ENST00000245407.8:c.1587-11T>G MANE Select ENSP00000245407.3:n.1587-11T>G
ENST00000245407.7:c.1587-11T>G ENSP00000245407.3:n.1587-11T>G
ENST00000435065.6:c.1659-11T>G ENSP00000402760.2:n.1659-11T>G
ENST00000447841.5:c.431-11T>G
ENST00000461013.5:n.9009-11T>G
ENST00000475308.1:n.2265-11T>G
NM_001308122.1:c.1659-11T>G NP_001295051.1:n.1659-11T>G
NM_003060.3:c.1587-11T>G NP_003051.1:n.1587-11T>G
XM_011543590.1:c.969-11T>G XP_011541892.1:n.969-11T>G
XR_948290.1:n.1713-11T>G
XM_011543590.2:c.969-11T>G XP_011541892.1:n.969-11T>G
XM_017009778.2:c.1059-11T>G XP_016865267.1:n.1059-11T>G
XR_001742215.1:n.1842-11T>G
XR_001742216.1:n.1861-11T>G
XR_427718.2:n.1947-11T>G
XR_948290.2:n.1713-11T>G
XR_948291.2:n.1941-11T>G
NM_003060.4:c.1587-11T>G MANE Select NP_003051.1:n.1587-11T>G
NM_001308122.2:c.1659-11T>G NP_001295051.1:n.1659-11T>G