Canonical Allele Identifier: CA360808799

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728206C>G (hg19) ; chr5:g.132392514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392514C>G , CM000667.2:g.132392514C>G	GRCh38
NC_000005.9:g.131728206C>G , CM000667.1:g.131728206C>G	GRCh37
NC_000005.8:g.131756105C>G	NCBI36
NG_008982.1:g.27806C>G
NG_008982.2:g.27811C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1190C>G	ENSP00000388838.2:p.Thr397Arg
ENST00000435065.7:c.1421C>G	ENSP00000402760.2:p.Thr474Arg
ENST00000448810.6:c.*201C>G	ENSP00000401860.2:n.*201C>G
ENST00000685543.1:n.1490C>G
ENST00000686757.1:c.*513C>G	ENSP00000510721.1:n.*513C>G
ENST00000687740.1:n.4034C>G
ENST00000688151.1:n.2659C>G
ENST00000689271.1:c.1196C>G	ENSP00000510797.1:p.Thr399Arg
ENST00000690900.1:c.*513C>G	ENSP00000510703.1:n.*513C>G
ENST00000692212.1:n.4489C>G
ENST00000692355.1:c.602C>G
ENST00000692413.1:c.1331C>G	ENSP00000509374.1:p.Thr444Arg
ENST00000692825.1:c.1417C>G	ENSP00000509447.1:n.1417C>G
ENST00000693308.1:c.1397C>G	ENSP00000509770.1:p.Thr466Arg
ENST00000693763.1:n.2509C>G
ENST00000245407.8:c.1349C>G MANE Select	ENSP00000245407.3:p.Thr450Arg
ENST00000245407.7:c.1349C>G	ENSP00000245407.3:p.Thr450Arg
ENST00000435065.6:c.1421C>G	ENSP00000402760.2:p.Thr474Arg
ENST00000447841.5:c.193C>G
ENST00000448810.5:c.611C>G
ENST00000461013.5:n.8771C>G
ENST00000475308.1:n.2027C>G
ENST00000479605.5:n.452C>G
NM_001308122.1:c.1421C>G	NP_001295051.1:p.Thr474Arg
NM_003060.3:c.1349C>G	NP_003051.1:p.Thr450Arg
XM_011543590.1:c.731C>G	XP_011541892.1:p.Thr244Arg
XR_948290.1:n.1475C>G
XM_011543590.2:c.731C>G	XP_011541892.1:p.Thr244Arg
XM_017009778.2:c.821C>G	XP_016865267.1:p.Thr274Arg
XR_001742215.1:n.1604C>G
XR_001742216.1:n.1623C>G
XR_427718.2:n.1709C>G
XR_948290.2:n.1475C>G
XR_948291.2:n.1703C>G
NM_003060.4:c.1349C>G MANE Select	NP_003051.1:p.Thr450Arg
NM_001308122.2:c.1421C>G	NP_001295051.1:p.Thr474Arg