Canonical Allele Identifier: CA360807791

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726560G>T (hg19) ; chr5:g.132390868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390868G>T , CM000667.2:g.132390868G>T	GRCh38
NC_000005.9:g.131726560G>T , CM000667.1:g.131726560G>T	GRCh37
NC_000005.8:g.131754459G>T	NCBI36
NG_008982.1:g.26160G>T
NG_008982.2:g.26165G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1072G>T	ENSP00000388838.2:p.Gly358Cys
ENST00000435065.7:c.1303G>T	ENSP00000402760.2:p.Gly435Cys
ENST00000448810.6:c.*83G>T	ENSP00000401860.2:n.*83G>T
ENST00000685543.1:n.1372G>T
ENST00000686757.1:c.*395G>T	ENSP00000510721.1:n.*395G>T
ENST00000687740.1:n.3916G>T
ENST00000688151.1:n.2541G>T
ENST00000689271.1:c.1078G>T	ENSP00000510797.1:p.Gly360Cys
ENST00000690900.1:c.*395G>T	ENSP00000510703.1:n.*395G>T
ENST00000692212.1:n.2843G>T
ENST00000692355.1:c.484G>T
ENST00000692413.1:c.1213G>T	ENSP00000509374.1:p.Gly405Cys
ENST00000692825.1:c.1299G>T	ENSP00000509447.1:n.1299G>T
ENST00000693308.1:c.1279G>T	ENSP00000509770.1:p.Gly427Cys
ENST00000693763.1:n.2391G>T
ENST00000245407.8:c.1231G>T MANE Select	ENSP00000245407.3:p.Gly411Cys
ENST00000245407.7:c.1231G>T	ENSP00000245407.3:p.Gly411Cys
ENST00000435065.6:c.1303G>T	ENSP00000402760.2:p.Gly435Cys
ENST00000447841.5:c.112-1565G>T
ENST00000448810.5:c.493G>T
ENST00000461013.5:n.8653G>T
ENST00000475308.1:n.1909G>T
ENST00000479605.5:n.334G>T
NM_001308122.1:c.1303G>T	NP_001295051.1:p.Gly435Cys
NM_003060.3:c.1231G>T	NP_003051.1:p.Gly411Cys
XM_011543590.1:c.613G>T	XP_011541892.1:p.Gly205Cys
XR_427718.1:n.1591G>T
XR_948290.1:n.1394-1565G>T
XR_948291.1:n.1585G>T
XM_011543590.2:c.613G>T	XP_011541892.1:p.Gly205Cys
XM_017009778.2:c.703G>T	XP_016865267.1:p.Gly235Cys
XR_001742215.1:n.1486G>T
XR_001742216.1:n.1505G>T
XR_427718.2:n.1591G>T
XR_948290.2:n.1394-1565G>T
XR_948291.2:n.1585G>T
NM_003060.4:c.1231G>T MANE Select	NP_003051.1:p.Gly411Cys
NM_001308122.2:c.1303G>T	NP_001295051.1:p.Gly435Cys