Canonical Allele Identifier: CA360807405

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726393C>G (hg19) ; chr5:g.132390701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390701C>G , CM000667.2:g.132390701C>G	GRCh38
NC_000005.9:g.131726393C>G , CM000667.1:g.131726393C>G	GRCh37
NC_000005.8:g.131754292C>G	NCBI36
NG_008982.1:g.25993C>G
NG_008982.2:g.25998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.905C>G	ENSP00000388838.2:p.Ser302Ter
ENST00000435065.7:c.1136C>G	ENSP00000402760.2:p.Ser379Ter
ENST00000448810.6:c.1053-75C>G	ENSP00000401860.2:n.1053-75C>G
ENST00000685543.1:n.1205C>G
ENST00000686757.1:c.*228C>G	ENSP00000510721.1:n.*228C>G
ENST00000687740.1:n.3749C>G
ENST00000688151.1:n.2374C>G
ENST00000689271.1:c.911C>G	ENSP00000510797.1:p.Ser304Ter
ENST00000690900.1:c.*228C>G	ENSP00000510703.1:n.*228C>G
ENST00000692212.1:n.2676C>G
ENST00000692355.1:c.317C>G
ENST00000692413.1:c.1046C>G	ENSP00000509374.1:p.Ser349Ter
ENST00000692825.1:c.1132C>G	ENSP00000509447.1:n.1132C>G
ENST00000693308.1:c.1112C>G	ENSP00000509770.1:p.Ser371Ter
ENST00000693763.1:n.2224C>G
ENST00000245407.8:c.1064C>G MANE Select	ENSP00000245407.3:p.Ser355Ter
ENST00000245407.7:c.1064C>G	ENSP00000245407.3:p.Ser355Ter
ENST00000435065.6:c.1136C>G	ENSP00000402760.2:p.Ser379Ter
ENST00000447841.5:c.111+1680C>G
ENST00000448810.5:c.401-75C>G
ENST00000461013.5:n.8486C>G
ENST00000475308.1:n.1742C>G
ENST00000479605.5:n.167C>G
NM_001308122.1:c.1136C>G	NP_001295051.1:p.Ser379Ter
NM_003060.3:c.1064C>G	NP_003051.1:p.Ser355Ter
XM_011543590.1:c.446C>G	XP_011541892.1:p.Ser149Ter
XR_427718.1:n.1424C>G
XR_948290.1:n.1393+1680C>G
XR_948291.1:n.1418C>G
XM_011543590.2:c.446C>G	XP_011541892.1:p.Ser149Ter
XM_017009778.2:c.536C>G	XP_016865267.1:p.Ser179Ter
XR_001742215.1:n.1394-75C>G
XR_001742216.1:n.1413-75C>G
XR_427718.2:n.1424C>G
XR_948290.2:n.1393+1680C>G
XR_948291.2:n.1418C>G
NM_003060.4:c.1064C>G MANE Select	NP_003051.1:p.Ser355Ter
NM_001308122.2:c.1136C>G	NP_001295051.1:p.Ser379Ter