Canonical Allele Identifier: CA446330541
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721183A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385491A>G , CM000667.2:g.132385491A>G GRCh38
NC_000005.9:g.131721183A>G , CM000667.1:g.131721183A>G GRCh37
NC_000005.8:g.131749082A>G NCBI36
NG_008982.1:g.20783A>G
NG_008982.2:g.20788A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1177A>G ENSP00000388838.2:n.665+1177A>G
ENST00000435065.7:c.888A>G ENSP00000402760.2:p.Ala296=
ENST00000448810.6:c.816A>G ENSP00000401860.2:p.Ala272=
ENST00000686757.1:c.835A>G ENSP00000510721.1:p.Thr279Ala
ENST00000687740.1:n.1976A>G
ENST00000688151.1:n.2008A>G
ENST00000689271.1:c.671+1171A>G ENSP00000510797.1:n.671+1171A>G
ENST00000690900.1:c.787A>G ENSP00000510703.1:p.Thr263Ala
ENST00000692212.1:n.642A>G
ENST00000692355.1:c.204+1190A>G
ENST00000692413.1:c.835A>G ENSP00000509374.1:p.Thr279Ala
ENST00000692825.1:c.884A>G ENSP00000509447.1:n.884A>G
ENST00000693308.1:c.829A>G ENSP00000509770.1:p.Thr277Ala
ENST00000693763.1:n.1976A>G
ENST00000245407.8:c.816A>G MANE Select ENSP00000245407.3:p.Ala272=
ENST00000245407.7:c.816A>G ENSP00000245407.3:p.Ala272=
ENST00000415928.5:c.585A>G ENSP00000388838.1:p.Ala195=
ENST00000435065.6:c.888A>G ENSP00000402760.2:p.Ala296=
ENST00000437841.6:c.*131A>G ENSP00000400553.1:n.*131A>G
ENST00000448810.5:c.164A>G
ENST00000461013.5:n.8238A>G
NM_001308122.1:c.888A>G NP_001295051.1:p.Ala296=
NM_003060.3:c.816A>G NP_003051.1:p.Ala272=
XM_011543590.1:c.198A>G XP_011541892.1:p.Ala66=
XR_427718.1:n.1176A>G
XR_948290.1:n.1157A>G
XR_948291.1:n.1170A>G
XM_011543590.2:c.198A>G XP_011541892.1:p.Ala66=
XM_017009778.2:c.288A>G XP_016865267.1:p.Ala96=
XR_001742215.1:n.1157A>G
XR_001742216.1:n.1176A>G
XR_427718.2:n.1176A>G
XR_948290.2:n.1157A>G
XR_948291.2:n.1170A>G
NM_003060.4:c.816A>G MANE Select NP_003051.1:p.Ala272=
NM_001308122.2:c.888A>G NP_001295051.1:p.Ala296=