Canonical Allele Identifier: CA1583146971
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387596T>G , CM000667.2:g.132387596T>G GRCh38
NC_000005.9:g.131723288T>G , CM000667.1:g.131723288T>G GRCh37
NC_000005.8:g.131751187T>G NCBI36
NG_008982.1:g.22888T>G
NG_008982.2:g.22893T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.792+445T>G ENSP00000388838.2:n.792+445T>G
ENST00000435065.7:c.1023+445T>G ENSP00000402760.2:n.1023+445T>G
ENST00000448810.6:c.951+445T>G ENSP00000401860.2:n.951+445T>G
ENST00000686757.1:c.*115+445T>G ENSP00000510721.1:n.*115+445T>G
ENST00000687740.1:n.3636+445T>G
ENST00000688151.1:n.2261+445T>G
ENST00000689271.1:c.798+445T>G ENSP00000510797.1:n.798+445T>G
ENST00000690900.1:c.*115+445T>G ENSP00000510703.1:n.*115+445T>G
ENST00000692212.1:n.895+445T>G
ENST00000692355.1:c.205-1325T>G
ENST00000692413.1:c.933+445T>G ENSP00000509374.1:n.933+445T>G
ENST00000692825.1:c.1019+445T>G ENSP00000509447.1:n.1019+445T>G
ENST00000693308.1:c.999+445T>G ENSP00000509770.1:n.999+445T>G
ENST00000693763.1:n.2111+445T>G
ENST00000245407.8:c.951+445T>G MANE Select ENSP00000245407.3:n.951+445T>G
ENST00000245407.7:c.951+445T>G ENSP00000245407.3:n.951+445T>G
ENST00000435065.6:c.1023+445T>G ENSP00000402760.2:n.1023+445T>G
ENST00000437841.6:c.*266+445T>G ENSP00000400553.1:n.*266+445T>G
ENST00000448810.5:c.299+445T>G
ENST00000461013.5:n.8373+445T>G
NM_001308122.1:c.1023+445T>G NP_001295051.1:n.1023+445T>G
NM_003060.3:c.951+445T>G NP_003051.1:n.951+445T>G
XM_011543590.1:c.333+445T>G XP_011541892.1:n.333+445T>G
XR_427718.1:n.1311+445T>G
XR_948290.1:n.1292+445T>G
XR_948291.1:n.1305+445T>G
XM_011543590.2:c.333+445T>G XP_011541892.1:n.333+445T>G
XM_017009778.2:c.423+445T>G XP_016865267.1:n.423+445T>G
XR_001742215.1:n.1292+445T>G
XR_001742216.1:n.1311+445T>G
XR_427718.2:n.1311+445T>G
XR_948290.2:n.1292+445T>G
XR_948291.2:n.1305+445T>G
NM_003060.4:c.951+445T>G MANE Select NP_003051.1:n.951+445T>G
NM_001308122.2:c.1023+445T>G NP_001295051.1:n.1023+445T>G