Canonical Allele Identifier: CA446346226
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729435C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393743C>G , CM000667.2:g.132393743C>G GRCh38
NC_000005.9:g.131729435C>G , CM000667.1:g.131729435C>G GRCh37
NC_000005.8:g.131757334C>G NCBI36
NG_008982.1:g.29035C>G
NG_008982.2:g.29040C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-442C>G ENSP00000388838.2:n.1292-442C>G
ENST00000435065.7:c.1590C>G ENSP00000402760.2:p.Thr530=
ENST00000448810.6:c.*370C>G ENSP00000401860.2:n.*370C>G
ENST00000685543.1:n.1659C>G
ENST00000686757.1:c.*682C>G ENSP00000510721.1:n.*682C>G
ENST00000686868.1:n.510C>G
ENST00000687740.1:n.4203C>G
ENST00000688151.1:n.2828C>G
ENST00000689271.1:c.1365C>G ENSP00000510797.1:p.Thr455=
ENST00000690900.1:c.*682C>G ENSP00000510703.1:n.*682C>G
ENST00000692212.1:n.4658C>G
ENST00000692355.1:c.771C>G
ENST00000692413.1:c.1500C>G ENSP00000509374.1:p.Thr500=
ENST00000692825.1:c.1586C>G ENSP00000509447.1:n.1586C>G
ENST00000693308.1:c.1566C>G ENSP00000509770.1:p.Thr522=
ENST00000693763.1:n.2678C>G
ENST00000245407.8:c.1518C>G MANE Select ENSP00000245407.3:p.Thr506=
ENST00000245407.7:c.1518C>G ENSP00000245407.3:p.Thr506=
ENST00000435065.6:c.1590C>G ENSP00000402760.2:p.Thr530=
ENST00000447841.5:c.362C>G
ENST00000448810.5:c.780C>G
ENST00000461013.5:n.8940C>G
ENST00000475308.1:n.2196C>G
NM_001308122.1:c.1590C>G NP_001295051.1:p.Thr530=
NM_003060.3:c.1518C>G NP_003051.1:p.Thr506=
XM_011543590.1:c.900C>G XP_011541892.1:p.Thr300=
XR_948290.1:n.1644C>G
XM_011543590.2:c.900C>G XP_011541892.1:p.Thr300=
XM_017009778.2:c.990C>G XP_016865267.1:p.Thr330=
XR_001742215.1:n.1773C>G
XR_001742216.1:n.1792C>G
XR_427718.2:n.1878C>G
XR_948290.2:n.1644C>G
XR_948291.2:n.1872C>G
NM_003060.4:c.1518C>G MANE Select NP_003051.1:p.Thr506=
NM_001308122.2:c.1590C>G NP_001295051.1:p.Thr530=