Canonical Allele Identifier: CA360802425
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1412805
ClinVar RCV Id: RCV001943288
dbSNP Id: rs2126764960

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370095C>G , CM000667.2:g.132370095C>G GRCh38
NC_000005.9:g.131705787C>G , CM000667.1:g.131705787C>G GRCh37
NC_000005.8:g.131733686C>G NCBI36
NG_008982.1:g.5387C>G
NG_008982.2:g.5392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.123C>G ENSP00000388838.2:p.Phe41Leu
ENST00000435065.7:c.123C>G ENSP00000402760.2:p.Phe41Leu
ENST00000448810.6:c.123C>G ENSP00000401860.2:p.Phe41Leu
ENST00000686757.1:c.123C>G ENSP00000510721.1:p.Phe41Leu
ENST00000687740.1:n.257C>G
ENST00000689271.1:c.123C>G ENSP00000510797.1:p.Phe41Leu
ENST00000690900.1:c.123C>G ENSP00000510703.1:p.Phe41Leu
ENST00000692413.1:c.123C>G ENSP00000509374.1:p.Phe41Leu
ENST00000692825.1:c.123C>G ENSP00000509447.1:p.Phe41Leu
ENST00000693308.1:c.123C>G ENSP00000509770.1:p.Phe41Leu
ENST00000693763.1:n.257C>G
ENST00000245407.8:c.123C>G MANE Select ENSP00000245407.3:p.Phe41Leu
ENST00000245407.7:c.123C>G ENSP00000245407.3:p.Phe41Leu
ENST00000435065.6:c.123C>G ENSP00000402760.2:p.Phe41Leu
ENST00000437841.6:c.123C>G ENSP00000400553.1:p.Phe41Leu
NM_001308122.1:c.123C>G NP_001295051.1:p.Phe41Leu
NM_003060.3:c.123C>G NP_003051.1:p.Phe41Leu
XR_427718.1:n.392C>G
XR_948290.1:n.392C>G
XR_948291.1:n.392C>G
XR_001742215.1:n.392C>G
XR_001742216.1:n.392C>G
XR_427718.2:n.392C>G
XR_948290.2:n.392C>G
XR_948291.2:n.392C>G
NM_003060.4:c.123C>G MANE Select NP_003051.1:p.Phe41Leu
NM_001308122.2:c.123C>G NP_001295051.1:p.Phe41Leu