Canonical Allele Identifier: CA360809815
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393736T>G , CM000667.2:g.132393736T>G GRCh38
NC_000005.9:g.131729428T>G , CM000667.1:g.131729428T>G GRCh37
NC_000005.8:g.131757327T>G NCBI36
NG_008982.1:g.29028T>G
NG_008982.2:g.29033T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-449T>G ENSP00000388838.2:n.1292-449T>G
ENST00000435065.7:c.1583T>G ENSP00000402760.2:p.Ile528Ser
ENST00000448810.6:c.*363T>G ENSP00000401860.2:n.*363T>G
ENST00000685543.1:n.1652T>G
ENST00000686757.1:c.*675T>G ENSP00000510721.1:n.*675T>G
ENST00000686868.1:n.503T>G
ENST00000687740.1:n.4196T>G
ENST00000688151.1:n.2821T>G
ENST00000689271.1:c.1358T>G ENSP00000510797.1:p.Ile453Ser
ENST00000690900.1:c.*675T>G ENSP00000510703.1:n.*675T>G
ENST00000692212.1:n.4651T>G
ENST00000692355.1:c.764T>G
ENST00000692413.1:c.1493T>G ENSP00000509374.1:p.Ile498Ser
ENST00000692825.1:c.1579T>G ENSP00000509447.1:n.1579T>G
ENST00000693308.1:c.1559T>G ENSP00000509770.1:p.Ile520Ser
ENST00000693763.1:n.2671T>G
ENST00000245407.8:c.1511T>G MANE Select ENSP00000245407.3:p.Ile504Ser
ENST00000245407.7:c.1511T>G ENSP00000245407.3:p.Ile504Ser
ENST00000435065.6:c.1583T>G ENSP00000402760.2:p.Ile528Ser
ENST00000447841.5:c.355T>G
ENST00000448810.5:c.773T>G
ENST00000461013.5:n.8933T>G
ENST00000475308.1:n.2189T>G
NM_001308122.1:c.1583T>G NP_001295051.1:p.Ile528Ser
NM_003060.3:c.1511T>G NP_003051.1:p.Ile504Ser
XM_011543590.1:c.893T>G XP_011541892.1:p.Ile298Ser
XR_948290.1:n.1637T>G
XM_011543590.2:c.893T>G XP_011541892.1:p.Ile298Ser
XM_017009778.2:c.983T>G XP_016865267.1:p.Ile328Ser
XR_001742215.1:n.1766T>G
XR_001742216.1:n.1785T>G
XR_427718.2:n.1871T>G
XR_948290.2:n.1637T>G
XR_948291.2:n.1865T>G
NM_003060.4:c.1511T>G MANE Select NP_003051.1:p.Ile504Ser
NM_001308122.2:c.1583T>G NP_001295051.1:p.Ile528Ser