Canonical Allele Identifier: CA360805561

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722748T>G (hg19) ; chr5:g.132387056T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387056T>G , CM000667.2:g.132387056T>G	GRCh38
NC_000005.9:g.131722748T>G , CM000667.1:g.131722748T>G	GRCh37
NC_000005.8:g.131750647T>G	NCBI36
NG_008982.1:g.22348T>G
NG_008982.2:g.22353T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.697T>G	ENSP00000388838.2:p.Ser233Ala
ENST00000435065.7:c.928T>G	ENSP00000402760.2:p.Ser310Ala
ENST00000448810.6:c.856T>G	ENSP00000401860.2:p.Ser286Ala
ENST00000686757.1:c.*20T>G	ENSP00000510721.1:n.*20T>G
ENST00000687740.1:n.3541T>G
ENST00000688151.1:n.2166T>G
ENST00000689271.1:c.703T>G	ENSP00000510797.1:p.Ser235Ala
ENST00000690900.1:c.*20T>G	ENSP00000510703.1:n.*20T>G
ENST00000692212.1:n.800T>G
ENST00000692355.1:c.205-1865T>G
ENST00000692413.1:c.844-6T>G	ENSP00000509374.1:n.844-6T>G
ENST00000692825.1:c.924T>G	ENSP00000509447.1:n.924T>G
ENST00000693308.1:c.904T>G	ENSP00000509770.1:p.Ser302Ala
ENST00000693763.1:n.2016T>G
ENST00000245407.8:c.856T>G MANE Select	ENSP00000245407.3:p.Ser286Ala
ENST00000245407.7:c.856T>G	ENSP00000245407.3:p.Ser286Ala
ENST00000415928.5:c.625T>G	ENSP00000388838.1:p.Ser209Ala
ENST00000435065.6:c.928T>G	ENSP00000402760.2:p.Ser310Ala
ENST00000437841.6:c.*171T>G	ENSP00000400553.1:n.*171T>G
ENST00000448810.5:c.204T>G
ENST00000461013.5:n.8278T>G
NM_001308122.1:c.928T>G	NP_001295051.1:p.Ser310Ala
NM_003060.3:c.856T>G	NP_003051.1:p.Ser286Ala
XM_011543590.1:c.238T>G	XP_011541892.1:p.Ser80Ala
XR_427718.1:n.1216T>G
XR_948290.1:n.1197T>G
XR_948291.1:n.1210T>G
XM_011543590.2:c.238T>G	XP_011541892.1:p.Ser80Ala
XM_017009778.2:c.328T>G	XP_016865267.1:p.Ser110Ala
XR_001742215.1:n.1197T>G
XR_001742216.1:n.1216T>G
XR_427718.2:n.1216T>G
XR_948290.2:n.1197T>G
XR_948291.2:n.1210T>G
NM_003060.4:c.856T>G MANE Select	NP_003051.1:p.Ser286Ala
NM_001308122.2:c.928T>G	NP_001295051.1:p.Ser310Ala