Canonical Allele Identifier: CA446346342
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729447A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393755A>C , CM000667.2:g.132393755A>C GRCh38
NC_000005.9:g.131729447A>C , CM000667.1:g.131729447A>C GRCh37
NC_000005.8:g.131757346A>C NCBI36
NG_008982.1:g.29047A>C
NG_008982.2:g.29052A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-430A>C ENSP00000388838.2:n.1292-430A>C
ENST00000435065.7:c.1602A>C ENSP00000402760.2:p.Pro534=
ENST00000448810.6:c.*382A>C ENSP00000401860.2:n.*382A>C
ENST00000685543.1:n.1671A>C
ENST00000686757.1:c.*694A>C ENSP00000510721.1:n.*694A>C
ENST00000686868.1:n.522A>C
ENST00000687740.1:n.4215A>C
ENST00000688151.1:n.2840A>C
ENST00000689271.1:c.1377A>C ENSP00000510797.1:p.Pro459=
ENST00000690900.1:c.*694A>C ENSP00000510703.1:n.*694A>C
ENST00000692212.1:n.4670A>C
ENST00000692355.1:c.783A>C
ENST00000692413.1:c.1512A>C ENSP00000509374.1:p.Pro504=
ENST00000692825.1:c.1598A>C ENSP00000509447.1:n.1598A>C
ENST00000693308.1:c.1578A>C ENSP00000509770.1:p.Pro526=
ENST00000693763.1:n.2690A>C
ENST00000245407.8:c.1530A>C MANE Select ENSP00000245407.3:p.Pro510=
ENST00000245407.7:c.1530A>C ENSP00000245407.3:p.Pro510=
ENST00000435065.6:c.1602A>C ENSP00000402760.2:p.Pro534=
ENST00000447841.5:c.374A>C
ENST00000448810.5:c.792A>C
ENST00000461013.5:n.8952A>C
ENST00000475308.1:n.2208A>C
NM_001308122.1:c.1602A>C NP_001295051.1:p.Pro534=
NM_003060.3:c.1530A>C NP_003051.1:p.Pro510=
XM_011543590.1:c.912A>C XP_011541892.1:p.Pro304=
XR_948290.1:n.1656A>C
XM_011543590.2:c.912A>C XP_011541892.1:p.Pro304=
XM_017009778.2:c.1002A>C XP_016865267.1:p.Pro334=
XR_001742215.1:n.1785A>C
XR_001742216.1:n.1804A>C
XR_427718.2:n.1890A>C
XR_948290.2:n.1656A>C
XR_948291.2:n.1884A>C
NM_003060.4:c.1530A>C MANE Select NP_003051.1:p.Pro510=
NM_001308122.2:c.1602A>C NP_001295051.1:p.Pro534=