Canonical Allele Identifier: CA446345924
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729408T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393716T>C , CM000667.2:g.132393716T>C GRCh38
NC_000005.9:g.131729408T>C , CM000667.1:g.131729408T>C GRCh37
NC_000005.8:g.131757307T>C NCBI36
NG_008982.1:g.29008T>C
NG_008982.2:g.29013T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-469T>C ENSP00000388838.2:n.1292-469T>C
ENST00000435065.7:c.1563T>C ENSP00000402760.2:p.Ser521=
ENST00000448810.6:c.*343T>C ENSP00000401860.2:n.*343T>C
ENST00000685543.1:n.1632T>C
ENST00000686757.1:c.*655T>C ENSP00000510721.1:n.*655T>C
ENST00000686868.1:n.483T>C
ENST00000687740.1:n.4176T>C
ENST00000688151.1:n.2801T>C
ENST00000689271.1:c.1338T>C ENSP00000510797.1:p.Ser446=
ENST00000690900.1:c.*655T>C ENSP00000510703.1:n.*655T>C
ENST00000692212.1:n.4631T>C
ENST00000692355.1:c.744T>C
ENST00000692413.1:c.1473T>C ENSP00000509374.1:p.Ser491=
ENST00000692825.1:c.1559T>C ENSP00000509447.1:n.1559T>C
ENST00000693308.1:c.1539T>C ENSP00000509770.1:p.Ser513=
ENST00000693763.1:n.2651T>C
ENST00000245407.8:c.1491T>C MANE Select ENSP00000245407.3:p.Ser497=
ENST00000245407.7:c.1491T>C ENSP00000245407.3:p.Ser497=
ENST00000435065.6:c.1563T>C ENSP00000402760.2:p.Ser521=
ENST00000447841.5:c.335T>C
ENST00000448810.5:c.753T>C
ENST00000461013.5:n.8913T>C
ENST00000475308.1:n.2169T>C
NM_001308122.1:c.1563T>C NP_001295051.1:p.Ser521=
NM_003060.3:c.1491T>C NP_003051.1:p.Ser497=
XM_011543590.1:c.873T>C XP_011541892.1:p.Ser291=
XR_948290.1:n.1617T>C
XM_011543590.2:c.873T>C XP_011541892.1:p.Ser291=
XM_017009778.2:c.963T>C XP_016865267.1:p.Ser321=
XR_001742215.1:n.1746T>C
XR_001742216.1:n.1765T>C
XR_427718.2:n.1851T>C
XR_948290.2:n.1617T>C
XR_948291.2:n.1845T>C
NM_003060.4:c.1491T>C MANE Select NP_003051.1:p.Ser497=
NM_001308122.2:c.1563T>C NP_001295051.1:p.Ser521=