Canonical Allele Identifier: CA16044014
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 375238
ClinVar RCV Id: RCV000416283
dbSNP Id: rs1057519051

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390825T>G , CM000667.2:g.132390825T>G GRCh38
NC_000005.9:g.131726517T>G , CM000667.1:g.131726517T>G GRCh37
NC_000005.8:g.131754416T>G NCBI36
NG_008982.1:g.26117T>G
NG_008982.2:g.26122T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1029T>G ENSP00000388838.2:p.Tyr343Ter
ENST00000435065.7:c.1260T>G ENSP00000402760.2:p.Tyr420Ter
ENST00000448810.6:c.*40T>G ENSP00000401860.2:n.*40T>G
ENST00000685543.1:n.1329T>G
ENST00000686757.1:c.*352T>G ENSP00000510721.1:n.*352T>G
ENST00000687740.1:n.3873T>G
ENST00000688151.1:n.2498T>G
ENST00000689271.1:c.1035T>G ENSP00000510797.1:p.Tyr345Ter
ENST00000690900.1:c.*352T>G ENSP00000510703.1:n.*352T>G
ENST00000692212.1:n.2800T>G
ENST00000692355.1:c.441T>G
ENST00000692413.1:c.1170T>G ENSP00000509374.1:p.Tyr390Ter
ENST00000692825.1:c.1256T>G ENSP00000509447.1:n.1256T>G
ENST00000693308.1:c.1236T>G ENSP00000509770.1:p.Tyr412Ter
ENST00000693763.1:n.2348T>G
ENST00000245407.8:c.1188T>G MANE Select ENSP00000245407.3:p.Tyr396Ter
ENST00000245407.7:c.1188T>G ENSP00000245407.3:p.Tyr396Ter
ENST00000435065.6:c.1260T>G ENSP00000402760.2:p.Tyr420Ter
ENST00000447841.5:c.112-1608T>G
ENST00000448810.5:c.450T>G
ENST00000461013.5:n.8610T>G
ENST00000475308.1:n.1866T>G
ENST00000479605.5:n.291T>G
NM_001308122.1:c.1260T>G NP_001295051.1:p.Tyr420Ter
NM_003060.3:c.1188T>G NP_003051.1:p.Tyr396Ter
XM_011543590.1:c.570T>G XP_011541892.1:p.Tyr190Ter
XR_427718.1:n.1548T>G
XR_948290.1:n.1394-1608T>G
XR_948291.1:n.1542T>G
XM_011543590.2:c.570T>G XP_011541892.1:p.Tyr190Ter
XM_017009778.2:c.660T>G XP_016865267.1:p.Tyr220Ter
XR_001742215.1:n.1443T>G
XR_001742216.1:n.1462T>G
XR_427718.2:n.1548T>G
XR_948290.2:n.1394-1608T>G
XR_948291.2:n.1542T>G
NM_003060.4:c.1188T>G MANE Select NP_003051.1:p.Tyr396Ter
NM_001308122.2:c.1260T>G NP_001295051.1:p.Tyr420Ter