Canonical Allele Identifier: CA446345676
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729390C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393698C>T , CM000667.2:g.132393698C>T GRCh38
NC_000005.9:g.131729390C>T , CM000667.1:g.131729390C>T GRCh37
NC_000005.8:g.131757289C>T NCBI36
NG_008982.1:g.28990C>T
NG_008982.2:g.28995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-487C>T ENSP00000388838.2:n.1292-487C>T
ENST00000435065.7:c.1545C>T ENSP00000402760.2:p.Pro515=
ENST00000448810.6:c.*325C>T ENSP00000401860.2:n.*325C>T
ENST00000685543.1:n.1614C>T
ENST00000686757.1:c.*637C>T ENSP00000510721.1:n.*637C>T
ENST00000686868.1:n.465C>T
ENST00000687740.1:n.4158C>T
ENST00000688151.1:n.2783C>T
ENST00000689271.1:c.1320C>T ENSP00000510797.1:p.Pro440=
ENST00000690900.1:c.*637C>T ENSP00000510703.1:n.*637C>T
ENST00000692212.1:n.4613C>T
ENST00000692355.1:c.726C>T
ENST00000692413.1:c.1455C>T ENSP00000509374.1:p.Pro485=
ENST00000692825.1:c.1541C>T ENSP00000509447.1:n.1541C>T
ENST00000693308.1:c.1521C>T ENSP00000509770.1:p.Pro507=
ENST00000693763.1:n.2633C>T
ENST00000245407.8:c.1473C>T MANE Select ENSP00000245407.3:p.Pro491=
ENST00000245407.7:c.1473C>T ENSP00000245407.3:p.Pro491=
ENST00000435065.6:c.1545C>T ENSP00000402760.2:p.Pro515=
ENST00000447841.5:c.317C>T
ENST00000448810.5:c.735C>T
ENST00000461013.5:n.8895C>T
ENST00000475308.1:n.2151C>T
NM_001308122.1:c.1545C>T NP_001295051.1:p.Pro515=
NM_003060.3:c.1473C>T NP_003051.1:p.Pro491=
XM_011543590.1:c.855C>T XP_011541892.1:p.Pro285=
XR_948290.1:n.1599C>T
XM_011543590.2:c.855C>T XP_011541892.1:p.Pro285=
XM_017009778.2:c.945C>T XP_016865267.1:p.Pro315=
XR_001742215.1:n.1728C>T
XR_001742216.1:n.1747C>T
XR_427718.2:n.1833C>T
XR_948290.2:n.1599C>T
XR_948291.2:n.1827C>T
NM_003060.4:c.1473C>T MANE Select NP_003051.1:p.Pro491=
NM_001308122.2:c.1545C>T NP_001295051.1:p.Pro515=