Canonical Allele Identifier: CA2573138878
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1671909
ClinVar RCV Id: RCV002199304
dbSNP Id: rs747417349

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390683G>A , CM000667.2:g.132390683G>A GRCh38
NC_000005.9:g.131726375G>A , CM000667.1:g.131726375G>A GRCh37
NC_000005.8:g.131754274G>A NCBI36
NG_008982.1:g.25975G>A
NG_008982.2:g.25980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.894-7G>A ENSP00000388838.2:n.894-7G>A
ENST00000435065.7:c.1125-7G>A ENSP00000402760.2:n.1125-7G>A
ENST00000448810.6:c.1053-93G>A ENSP00000401860.2:n.1053-93G>A
ENST00000685543.1:n.1194-7G>A
ENST00000686757.1:c.*217-7G>A ENSP00000510721.1:n.*217-7G>A
ENST00000687740.1:n.3738-7G>A
ENST00000688151.1:n.2363-7G>A
ENST00000689271.1:c.900-7G>A ENSP00000510797.1:n.900-7G>A
ENST00000690900.1:c.*217-7G>A ENSP00000510703.1:n.*217-7G>A
ENST00000692212.1:n.2658G>A
ENST00000692355.1:c.306-7G>A
ENST00000692413.1:c.1035-7G>A ENSP00000509374.1:n.1035-7G>A
ENST00000692825.1:c.1121-7G>A ENSP00000509447.1:n.1121-7G>A
ENST00000693308.1:c.1101-7G>A ENSP00000509770.1:n.1101-7G>A
ENST00000693763.1:n.2213-7G>A
ENST00000245407.8:c.1053-7G>A MANE Select ENSP00000245407.3:n.1053-7G>A
ENST00000245407.7:c.1053-7G>A ENSP00000245407.3:n.1053-7G>A
ENST00000435065.6:c.1125-7G>A ENSP00000402760.2:n.1125-7G>A
ENST00000447841.5:c.111+1662G>A
ENST00000448810.5:c.401-93G>A
ENST00000461013.5:n.8475-7G>A
ENST00000475308.1:n.1724G>A
ENST00000479605.5:n.156-7G>A
NM_001308122.1:c.1125-7G>A NP_001295051.1:n.1125-7G>A
NM_003060.3:c.1053-7G>A NP_003051.1:n.1053-7G>A
XM_011543590.1:c.435-7G>A XP_011541892.1:n.435-7G>A
XR_427718.1:n.1413-7G>A
XR_948290.1:n.1393+1662G>A
XR_948291.1:n.1407-7G>A
XM_011543590.2:c.435-7G>A XP_011541892.1:n.435-7G>A
XM_017009778.2:c.525-7G>A XP_016865267.1:n.525-7G>A
XR_001742215.1:n.1394-93G>A
XR_001742216.1:n.1413-93G>A
XR_427718.2:n.1413-7G>A
XR_948290.2:n.1393+1662G>A
XR_948291.2:n.1407-7G>A
NM_003060.4:c.1053-7G>A MANE Select NP_003051.1:n.1053-7G>A
NM_001308122.2:c.1125-7G>A NP_001295051.1:n.1125-7G>A