Canonical Allele Identifier: CA446345372
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729372C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393680C>A , CM000667.2:g.132393680C>A GRCh38
NC_000005.9:g.131729372C>A , CM000667.1:g.131729372C>A GRCh37
NC_000005.8:g.131757271C>A NCBI36
NG_008982.1:g.28972C>A
NG_008982.2:g.28977C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-505C>A ENSP00000388838.2:n.1292-505C>A
ENST00000435065.7:c.1527C>A ENSP00000402760.2:p.Ala509=
ENST00000448810.6:c.*307C>A ENSP00000401860.2:n.*307C>A
ENST00000685543.1:n.1596C>A
ENST00000686757.1:c.*619C>A ENSP00000510721.1:n.*619C>A
ENST00000686868.1:n.447C>A
ENST00000687740.1:n.4140C>A
ENST00000688151.1:n.2765C>A
ENST00000689271.1:c.1302C>A ENSP00000510797.1:p.Ala434=
ENST00000690900.1:c.*619C>A ENSP00000510703.1:n.*619C>A
ENST00000692212.1:n.4595C>A
ENST00000692355.1:c.708C>A
ENST00000692413.1:c.1437C>A ENSP00000509374.1:p.Ala479=
ENST00000692825.1:c.1523C>A ENSP00000509447.1:n.1523C>A
ENST00000693308.1:c.1503C>A ENSP00000509770.1:p.Ala501=
ENST00000693763.1:n.2615C>A
ENST00000245407.8:c.1455C>A MANE Select ENSP00000245407.3:p.Ala485=
ENST00000245407.7:c.1455C>A ENSP00000245407.3:p.Ala485=
ENST00000435065.6:c.1527C>A ENSP00000402760.2:p.Ala509=
ENST00000447841.5:c.299C>A
ENST00000448810.5:c.717C>A
ENST00000461013.5:n.8877C>A
ENST00000475308.1:n.2133C>A
ENST00000479605.5:n.558C>A
NM_001308122.1:c.1527C>A NP_001295051.1:p.Ala509=
NM_003060.3:c.1455C>A NP_003051.1:p.Ala485=
XM_011543590.1:c.837C>A XP_011541892.1:p.Ala279=
XR_948290.1:n.1581C>A
XM_011543590.2:c.837C>A XP_011541892.1:p.Ala279=
XM_017009778.2:c.927C>A XP_016865267.1:p.Ala309=
XR_001742215.1:n.1710C>A
XR_001742216.1:n.1729C>A
XR_427718.2:n.1815C>A
XR_948290.2:n.1581C>A
XR_948291.2:n.1809C>A
NM_003060.4:c.1455C>A MANE Select NP_003051.1:p.Ala485=
NM_001308122.2:c.1527C>A NP_001295051.1:p.Ala509=