Canonical Allele Identifier: CA360809756
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393718T>A , CM000667.2:g.132393718T>A GRCh38
NC_000005.9:g.131729410T>A , CM000667.1:g.131729410T>A GRCh37
NC_000005.8:g.131757309T>A NCBI36
NG_008982.1:g.29010T>A
NG_008982.2:g.29015T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-467T>A ENSP00000388838.2:n.1292-467T>A
ENST00000435065.7:c.1565T>A ENSP00000402760.2:p.Leu522Gln
ENST00000448810.6:c.*345T>A ENSP00000401860.2:n.*345T>A
ENST00000685543.1:n.1634T>A
ENST00000686757.1:c.*657T>A ENSP00000510721.1:n.*657T>A
ENST00000686868.1:n.485T>A
ENST00000687740.1:n.4178T>A
ENST00000688151.1:n.2803T>A
ENST00000689271.1:c.1340T>A ENSP00000510797.1:p.Leu447Gln
ENST00000690900.1:c.*657T>A ENSP00000510703.1:n.*657T>A
ENST00000692212.1:n.4633T>A
ENST00000692355.1:c.746T>A
ENST00000692413.1:c.1475T>A ENSP00000509374.1:p.Leu492Gln
ENST00000692825.1:c.1561T>A ENSP00000509447.1:n.1561T>A
ENST00000693308.1:c.1541T>A ENSP00000509770.1:p.Leu514Gln
ENST00000693763.1:n.2653T>A
ENST00000245407.8:c.1493T>A MANE Select ENSP00000245407.3:p.Leu498Gln
ENST00000245407.7:c.1493T>A ENSP00000245407.3:p.Leu498Gln
ENST00000435065.6:c.1565T>A ENSP00000402760.2:p.Leu522Gln
ENST00000447841.5:c.337T>A
ENST00000448810.5:c.755T>A
ENST00000461013.5:n.8915T>A
ENST00000475308.1:n.2171T>A
NM_001308122.1:c.1565T>A NP_001295051.1:p.Leu522Gln
NM_003060.3:c.1493T>A NP_003051.1:p.Leu498Gln
XM_011543590.1:c.875T>A XP_011541892.1:p.Leu292Gln
XR_948290.1:n.1619T>A
XM_011543590.2:c.875T>A XP_011541892.1:p.Leu292Gln
XM_017009778.2:c.965T>A XP_016865267.1:p.Leu322Gln
XR_001742215.1:n.1748T>A
XR_001742216.1:n.1767T>A
XR_427718.2:n.1853T>A
XR_948290.2:n.1619T>A
XR_948291.2:n.1847T>A
NM_003060.4:c.1493T>A MANE Select NP_003051.1:p.Leu498Gln
NM_001308122.2:c.1565T>A NP_001295051.1:p.Leu522Gln