Canonical Allele Identifier: CA360809935
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393771C>G , CM000667.2:g.132393771C>G GRCh38
NC_000005.9:g.131729463C>G , CM000667.1:g.131729463C>G GRCh37
NC_000005.8:g.131757362C>G NCBI36
NG_008982.1:g.29063C>G
NG_008982.2:g.29068C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-414C>G ENSP00000388838.2:n.1292-414C>G
ENST00000435065.7:c.1618C>G ENSP00000402760.2:p.Pro540Ala
ENST00000448810.6:c.*398C>G ENSP00000401860.2:n.*398C>G
ENST00000685543.1:n.1687C>G
ENST00000686757.1:c.*710C>G ENSP00000510721.1:n.*710C>G
ENST00000686868.1:n.538C>G
ENST00000687740.1:n.4231C>G
ENST00000688151.1:n.2856C>G
ENST00000689271.1:c.1393C>G ENSP00000510797.1:p.Pro465Ala
ENST00000690900.1:c.*710C>G ENSP00000510703.1:n.*710C>G
ENST00000692212.1:n.4686C>G
ENST00000692355.1:c.799C>G
ENST00000692413.1:c.1528C>G ENSP00000509374.1:p.Pro510Ala
ENST00000692825.1:c.1614C>G ENSP00000509447.1:n.1614C>G
ENST00000693308.1:c.1594C>G ENSP00000509770.1:p.Pro532Ala
ENST00000693763.1:n.2706C>G
ENST00000245407.8:c.1546C>G MANE Select ENSP00000245407.3:p.Pro516Ala
ENST00000245407.7:c.1546C>G ENSP00000245407.3:p.Pro516Ala
ENST00000435065.6:c.1618C>G ENSP00000402760.2:p.Pro540Ala
ENST00000447841.5:c.390C>G
ENST00000448810.5:c.808C>G
ENST00000461013.5:n.8968C>G
ENST00000475308.1:n.2224C>G
NM_001308122.1:c.1618C>G NP_001295051.1:p.Pro540Ala
NM_003060.3:c.1546C>G NP_003051.1:p.Pro516Ala
XM_011543590.1:c.928C>G XP_011541892.1:p.Pro310Ala
XR_948290.1:n.1672C>G
XM_011543590.2:c.928C>G XP_011541892.1:p.Pro310Ala
XM_017009778.2:c.1018C>G XP_016865267.1:p.Pro340Ala
XR_001742215.1:n.1801C>G
XR_001742216.1:n.1820C>G
XR_427718.2:n.1906C>G
XR_948290.2:n.1672C>G
XR_948291.2:n.1900C>G
NM_003060.4:c.1546C>G MANE Select NP_003051.1:p.Pro516Ala
NM_001308122.2:c.1618C>G NP_001295051.1:p.Pro540Ala