Canonical Allele Identifier: CA446329879
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131719947T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132384255T>G , CM000667.2:g.132384255T>G GRCh38
NC_000005.9:g.131719947T>G , CM000667.1:g.131719947T>G GRCh37
NC_000005.8:g.131747846T>G NCBI36
NG_008982.1:g.19547T>G
NG_008982.2:g.19552T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.606T>G ENSP00000388838.2:p.Leu202=
ENST00000435065.7:c.678T>G ENSP00000402760.2:p.Leu226=
ENST00000448810.6:c.606T>G ENSP00000401860.2:p.Leu202=
ENST00000686757.1:c.606T>G ENSP00000510721.1:p.Leu202=
ENST00000687740.1:n.740T>G
ENST00000688151.1:n.1785T>G
ENST00000689271.1:c.606T>G ENSP00000510797.1:p.Leu202=
ENST00000690900.1:c.606T>G ENSP00000510703.1:p.Leu202=
ENST00000692355.1:c.158T>G
ENST00000692413.1:c.606T>G ENSP00000509374.1:p.Leu202=
ENST00000692825.1:c.674T>G ENSP00000509447.1:n.674T>G
ENST00000693308.1:c.606T>G ENSP00000509770.1:p.Leu202=
ENST00000693763.1:n.740T>G
ENST00000245407.8:c.606T>G MANE Select ENSP00000245407.3:p.Leu202=
ENST00000245407.7:c.606T>G ENSP00000245407.3:p.Leu202=
ENST00000415928.5:c.375T>G ENSP00000388838.1:p.Leu125=
ENST00000435065.6:c.678T>G ENSP00000402760.2:p.Leu226=
ENST00000437841.6:c.394-1073T>G ENSP00000400553.1:n.394-1073T>G
ENST00000461013.5:n.8028T>G
NM_001308122.1:c.678T>G NP_001295051.1:p.Leu226=
NM_003060.3:c.606T>G NP_003051.1:p.Leu202=
XM_011543590.1:c.-26T>G XP_011541892.1:n.-26T>G
XR_427718.1:n.947T>G
XR_948290.1:n.947T>G
XR_948291.1:n.947T>G
XM_011543590.2:c.-26T>G XP_011541892.1:n.-26T>G
XM_017009778.2:c.78T>G XP_016865267.1:p.Leu26=
XR_001742215.1:n.947T>G
XR_001742216.1:n.947T>G
XR_427718.2:n.947T>G
XR_948290.2:n.947T>G
XR_948291.2:n.947T>G
NM_003060.4:c.606T>G MANE Select NP_003051.1:p.Leu202=
NM_001308122.2:c.678T>G NP_001295051.1:p.Leu226=