Canonical Allele Identifier: CA360809649
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393694T>G , CM000667.2:g.132393694T>G GRCh38
NC_000005.9:g.131729386T>G , CM000667.1:g.131729386T>G GRCh37
NC_000005.8:g.131757285T>G NCBI36
NG_008982.1:g.28986T>G
NG_008982.2:g.28991T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-491T>G ENSP00000388838.2:n.1292-491T>G
ENST00000435065.7:c.1541T>G ENSP00000402760.2:p.Leu514Arg
ENST00000448810.6:c.*321T>G ENSP00000401860.2:n.*321T>G
ENST00000685543.1:n.1610T>G
ENST00000686757.1:c.*633T>G ENSP00000510721.1:n.*633T>G
ENST00000686868.1:n.461T>G
ENST00000687740.1:n.4154T>G
ENST00000688151.1:n.2779T>G
ENST00000689271.1:c.1316T>G ENSP00000510797.1:p.Leu439Arg
ENST00000690900.1:c.*633T>G ENSP00000510703.1:n.*633T>G
ENST00000692212.1:n.4609T>G
ENST00000692355.1:c.722T>G
ENST00000692413.1:c.1451T>G ENSP00000509374.1:p.Leu484Arg
ENST00000692825.1:c.1537T>G ENSP00000509447.1:n.1537T>G
ENST00000693308.1:c.1517T>G ENSP00000509770.1:p.Leu506Arg
ENST00000693763.1:n.2629T>G
ENST00000245407.8:c.1469T>G MANE Select ENSP00000245407.3:p.Leu490Arg
ENST00000245407.7:c.1469T>G ENSP00000245407.3:p.Leu490Arg
ENST00000435065.6:c.1541T>G ENSP00000402760.2:p.Leu514Arg
ENST00000447841.5:c.313T>G
ENST00000448810.5:c.731T>G
ENST00000461013.5:n.8891T>G
ENST00000475308.1:n.2147T>G
NM_001308122.1:c.1541T>G NP_001295051.1:p.Leu514Arg
NM_003060.3:c.1469T>G NP_003051.1:p.Leu490Arg
XM_011543590.1:c.851T>G XP_011541892.1:p.Leu284Arg
XR_948290.1:n.1595T>G
XM_011543590.2:c.851T>G XP_011541892.1:p.Leu284Arg
XM_017009778.2:c.941T>G XP_016865267.1:p.Leu314Arg
XR_001742215.1:n.1724T>G
XR_001742216.1:n.1743T>G
XR_427718.2:n.1829T>G
XR_948290.2:n.1595T>G
XR_948291.2:n.1823T>G
NM_003060.4:c.1469T>G MANE Select NP_003051.1:p.Leu490Arg
NM_001308122.2:c.1541T>G NP_001295051.1:p.Leu514Arg