Canonical Allele Identifier: CA446346121
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729426C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393734C>G , CM000667.2:g.132393734C>G GRCh38
NC_000005.9:g.131729426C>G , CM000667.1:g.131729426C>G GRCh37
NC_000005.8:g.131757325C>G NCBI36
NG_008982.1:g.29026C>G
NG_008982.2:g.29031C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-451C>G ENSP00000388838.2:n.1292-451C>G
ENST00000435065.7:c.1581C>G ENSP00000402760.2:p.Ala527=
ENST00000448810.6:c.*361C>G ENSP00000401860.2:n.*361C>G
ENST00000685543.1:n.1650C>G
ENST00000686757.1:c.*673C>G ENSP00000510721.1:n.*673C>G
ENST00000686868.1:n.501C>G
ENST00000687740.1:n.4194C>G
ENST00000688151.1:n.2819C>G
ENST00000689271.1:c.1356C>G ENSP00000510797.1:p.Ala452=
ENST00000690900.1:c.*673C>G ENSP00000510703.1:n.*673C>G
ENST00000692212.1:n.4649C>G
ENST00000692355.1:c.762C>G
ENST00000692413.1:c.1491C>G ENSP00000509374.1:p.Ala497=
ENST00000692825.1:c.1577C>G ENSP00000509447.1:n.1577C>G
ENST00000693308.1:c.1557C>G ENSP00000509770.1:p.Ala519=
ENST00000693763.1:n.2669C>G
ENST00000245407.8:c.1509C>G MANE Select ENSP00000245407.3:p.Ala503=
ENST00000245407.7:c.1509C>G ENSP00000245407.3:p.Ala503=
ENST00000435065.6:c.1581C>G ENSP00000402760.2:p.Ala527=
ENST00000447841.5:c.353C>G
ENST00000448810.5:c.771C>G
ENST00000461013.5:n.8931C>G
ENST00000475308.1:n.2187C>G
NM_001308122.1:c.1581C>G NP_001295051.1:p.Ala527=
NM_003060.3:c.1509C>G NP_003051.1:p.Ala503=
XM_011543590.1:c.891C>G XP_011541892.1:p.Ala297=
XR_948290.1:n.1635C>G
XM_011543590.2:c.891C>G XP_011541892.1:p.Ala297=
XM_017009778.2:c.981C>G XP_016865267.1:p.Ala327=
XR_001742215.1:n.1764C>G
XR_001742216.1:n.1783C>G
XR_427718.2:n.1869C>G
XR_948290.2:n.1635C>G
XR_948291.2:n.1863C>G
NM_003060.4:c.1509C>G MANE Select NP_003051.1:p.Ala503=
NM_001308122.2:c.1581C>G NP_001295051.1:p.Ala527=