Canonical Allele Identifier: CA446335051
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131724624A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132388932A>G , CM000667.2:g.132388932A>G GRCh38
NC_000005.9:g.131724624A>G , CM000667.1:g.131724624A>G GRCh37
NC_000005.8:g.131752523A>G NCBI36
NG_008982.1:g.24224A>G
NG_008982.2:g.24229A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.804A>G ENSP00000388838.2:p.Leu268=
ENST00000435065.7:c.1035A>G ENSP00000402760.2:p.Leu345=
ENST00000448810.6:c.963A>G ENSP00000401860.2:p.Leu321=
ENST00000685543.1:n.1104A>G
ENST00000686757.1:c.*127A>G ENSP00000510721.1:n.*127A>G
ENST00000687740.1:n.3648A>G
ENST00000688151.1:n.2273A>G
ENST00000689271.1:c.810A>G ENSP00000510797.1:p.Leu270=
ENST00000690900.1:c.*127A>G ENSP00000510703.1:n.*127A>G
ENST00000692212.1:n.907A>G
ENST00000692355.1:c.216A>G
ENST00000692413.1:c.945A>G ENSP00000509374.1:p.Leu315=
ENST00000692825.1:c.1031A>G ENSP00000509447.1:n.1031A>G
ENST00000693308.1:c.1011A>G ENSP00000509770.1:p.Leu337=
ENST00000693763.1:n.2123A>G
ENST00000245407.8:c.963A>G MANE Select ENSP00000245407.3:p.Leu321=
ENST00000245407.7:c.963A>G ENSP00000245407.3:p.Leu321=
ENST00000435065.6:c.1035A>G ENSP00000402760.2:p.Leu345=
ENST00000437841.6:c.*278A>G ENSP00000400553.1:n.*278A>G
ENST00000447841.5:c.22A>G
ENST00000448810.5:c.311A>G
ENST00000461013.5:n.8385A>G
ENST00000479605.5:n.66A>G
NM_001308122.1:c.1035A>G NP_001295051.1:p.Leu345=
NM_003060.3:c.963A>G NP_003051.1:p.Leu321=
XM_011543590.1:c.345A>G XP_011541892.1:p.Leu115=
XR_427718.1:n.1323A>G
XR_948290.1:n.1304A>G
XR_948291.1:n.1317A>G
XM_011543590.2:c.345A>G XP_011541892.1:p.Leu115=
XM_017009778.2:c.435A>G XP_016865267.1:p.Leu145=
XR_001742215.1:n.1304A>G
XR_001742216.1:n.1323A>G
XR_427718.2:n.1323A>G
XR_948290.2:n.1304A>G
XR_948291.2:n.1317A>G
NM_003060.4:c.963A>G MANE Select NP_003051.1:p.Leu321=
NM_001308122.2:c.1035A>G NP_001295051.1:p.Leu345=