Canonical Allele Identifier: CA2578402215
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393893T>A , CM000667.2:g.132393893T>A GRCh38
NC_000005.9:g.131729585T>A , CM000667.1:g.131729585T>A GRCh37
NC_000005.8:g.131757484T>A NCBI36
NG_008982.1:g.29185T>A
NG_008982.2:g.29190T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-292T>A ENSP00000388838.2:n.1292-292T>A
ENST00000435065.7:c.1658+82T>A ENSP00000402760.2:n.1658+82T>A
ENST00000448810.6:c.*438+82T>A ENSP00000401860.2:n.*438+82T>A
ENST00000685543.1:n.1727+82T>A
ENST00000686757.1:c.*750+82T>A ENSP00000510721.1:n.*750+82T>A
ENST00000686868.1:n.578+82T>A
ENST00000687740.1:n.4271+82T>A
ENST00000688151.1:n.2896+82T>A
ENST00000689271.1:c.1433+82T>A ENSP00000510797.1:n.1433+82T>A
ENST00000690900.1:c.*750+82T>A ENSP00000510703.1:n.*750+82T>A
ENST00000692212.1:n.4726+82T>A
ENST00000692355.1:c.839+82T>A
ENST00000692413.1:c.1568+82T>A ENSP00000509374.1:n.1568+82T>A
ENST00000692825.1:c.1654+82T>A ENSP00000509447.1:n.1654+82T>A
ENST00000693308.1:c.1634+82T>A ENSP00000509770.1:n.1634+82T>A
ENST00000693763.1:n.2746+82T>A
ENST00000245407.8:c.1586+82T>A MANE Select ENSP00000245407.3:n.1586+82T>A
ENST00000245407.7:c.1586+82T>A ENSP00000245407.3:n.1586+82T>A
ENST00000435065.6:c.1658+82T>A ENSP00000402760.2:n.1658+82T>A
ENST00000447841.5:c.430+82T>A
ENST00000461013.5:n.9008+82T>A
ENST00000475308.1:n.2264+82T>A
NM_001308122.1:c.1658+82T>A NP_001295051.1:n.1658+82T>A
NM_003060.3:c.1586+82T>A NP_003051.1:n.1586+82T>A
XM_011543590.1:c.968+82T>A XP_011541892.1:n.968+82T>A
XR_948290.1:n.1712+82T>A
XM_011543590.2:c.968+82T>A XP_011541892.1:n.968+82T>A
XM_017009778.2:c.1058+82T>A XP_016865267.1:n.1058+82T>A
XR_001742215.1:n.1841+82T>A
XR_001742216.1:n.1860+82T>A
XR_427718.2:n.1946+82T>A
XR_948290.2:n.1712+82T>A
XR_948291.2:n.1940+82T>A
NM_003060.4:c.1586+82T>A MANE Select NP_003051.1:n.1586+82T>A
NM_001308122.2:c.1658+82T>A NP_001295051.1:n.1658+82T>A