Canonical Allele Identifier: CA360809867
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393753C>G , CM000667.2:g.132393753C>G GRCh38
NC_000005.9:g.131729445C>G , CM000667.1:g.131729445C>G GRCh37
NC_000005.8:g.131757344C>G NCBI36
NG_008982.1:g.29045C>G
NG_008982.2:g.29050C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-432C>G ENSP00000388838.2:n.1292-432C>G
ENST00000435065.7:c.1600C>G ENSP00000402760.2:p.Pro534Ala
ENST00000448810.6:c.*380C>G ENSP00000401860.2:n.*380C>G
ENST00000685543.1:n.1669C>G
ENST00000686757.1:c.*692C>G ENSP00000510721.1:n.*692C>G
ENST00000686868.1:n.520C>G
ENST00000687740.1:n.4213C>G
ENST00000688151.1:n.2838C>G
ENST00000689271.1:c.1375C>G ENSP00000510797.1:p.Pro459Ala
ENST00000690900.1:c.*692C>G ENSP00000510703.1:n.*692C>G
ENST00000692212.1:n.4668C>G
ENST00000692355.1:c.781C>G
ENST00000692413.1:c.1510C>G ENSP00000509374.1:p.Pro504Ala
ENST00000692825.1:c.1596C>G ENSP00000509447.1:n.1596C>G
ENST00000693308.1:c.1576C>G ENSP00000509770.1:p.Pro526Ala
ENST00000693763.1:n.2688C>G
ENST00000245407.8:c.1528C>G MANE Select ENSP00000245407.3:p.Pro510Ala
ENST00000245407.7:c.1528C>G ENSP00000245407.3:p.Pro510Ala
ENST00000435065.6:c.1600C>G ENSP00000402760.2:p.Pro534Ala
ENST00000447841.5:c.372C>G
ENST00000448810.5:c.790C>G
ENST00000461013.5:n.8950C>G
ENST00000475308.1:n.2206C>G
NM_001308122.1:c.1600C>G NP_001295051.1:p.Pro534Ala
NM_003060.3:c.1528C>G NP_003051.1:p.Pro510Ala
XM_011543590.1:c.910C>G XP_011541892.1:p.Pro304Ala
XR_948290.1:n.1654C>G
XM_011543590.2:c.910C>G XP_011541892.1:p.Pro304Ala
XM_017009778.2:c.1000C>G XP_016865267.1:p.Pro334Ala
XR_001742215.1:n.1783C>G
XR_001742216.1:n.1802C>G
XR_427718.2:n.1888C>G
XR_948290.2:n.1654C>G
XR_948291.2:n.1882C>G
NM_003060.4:c.1528C>G MANE Select NP_003051.1:p.Pro510Ala
NM_001308122.2:c.1600C>G NP_001295051.1:p.Pro534Ala