Canonical Allele Identifier: CA360802717
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707670
ClinVar RCV Id: RCV002286649
dbSNP Id: rs1246873041

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370246T>G , CM000667.2:g.132370246T>G GRCh38
NC_000005.9:g.131705938T>G , CM000667.1:g.131705938T>G GRCh37
NC_000005.8:g.131733837T>G NCBI36
NG_008982.1:g.5538T>G
NG_008982.2:g.5543T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.274T>G ENSP00000388838.2:p.Phe92Val
ENST00000435065.7:c.274T>G ENSP00000402760.2:p.Phe92Val
ENST00000448810.6:c.274T>G ENSP00000401860.2:p.Phe92Val
ENST00000686757.1:c.274T>G ENSP00000510721.1:p.Phe92Val
ENST00000687740.1:n.408T>G
ENST00000689271.1:c.274T>G ENSP00000510797.1:p.Phe92Val
ENST00000690900.1:c.274T>G ENSP00000510703.1:p.Phe92Val
ENST00000692413.1:c.274T>G ENSP00000509374.1:p.Phe92Val
ENST00000692825.1:c.274T>G ENSP00000509447.1:p.Phe92Val
ENST00000693308.1:c.274T>G ENSP00000509770.1:p.Phe92Val
ENST00000693763.1:n.408T>G
ENST00000245407.8:c.274T>G MANE Select ENSP00000245407.3:p.Phe92Val
ENST00000245407.7:c.274T>G ENSP00000245407.3:p.Phe92Val
ENST00000435065.6:c.274T>G ENSP00000402760.2:p.Phe92Val
ENST00000437841.6:c.274T>G ENSP00000400553.1:p.Phe92Val
NM_001308122.1:c.274T>G NP_001295051.1:p.Phe92Val
NM_003060.3:c.274T>G NP_003051.1:p.Phe92Val
XR_427718.1:n.543T>G
XR_948290.1:n.543T>G
XR_948291.1:n.543T>G
XM_011543590.2:c.-358T>G XP_011541892.1:n.-358T>G
XR_001742215.1:n.543T>G
XR_001742216.1:n.543T>G
XR_427718.2:n.543T>G
XR_948290.2:n.543T>G
XR_948291.2:n.543T>G
NM_003060.4:c.274T>G MANE Select NP_003051.1:p.Phe92Val
NM_001308122.2:c.274T>G NP_001295051.1:p.Phe92Val