Canonical Allele Identifier: CA360807777

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726552T>G (hg19) ; chr5:g.132390860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390860T>G , CM000667.2:g.132390860T>G	GRCh38
NC_000005.9:g.131726552T>G , CM000667.1:g.131726552T>G	GRCh37
NC_000005.8:g.131754451T>G	NCBI36
NG_008982.1:g.26152T>G
NG_008982.2:g.26157T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1064T>G	ENSP00000388838.2:p.Phe355Cys
ENST00000435065.7:c.1295T>G	ENSP00000402760.2:p.Phe432Cys
ENST00000448810.6:c.*75T>G	ENSP00000401860.2:n.*75T>G
ENST00000685543.1:n.1364T>G
ENST00000686757.1:c.*387T>G	ENSP00000510721.1:n.*387T>G
ENST00000687740.1:n.3908T>G
ENST00000688151.1:n.2533T>G
ENST00000689271.1:c.1070T>G	ENSP00000510797.1:p.Phe357Cys
ENST00000690900.1:c.*387T>G	ENSP00000510703.1:n.*387T>G
ENST00000692212.1:n.2835T>G
ENST00000692355.1:c.476T>G
ENST00000692413.1:c.1205T>G	ENSP00000509374.1:p.Phe402Cys
ENST00000692825.1:c.1291T>G	ENSP00000509447.1:n.1291T>G
ENST00000693308.1:c.1271T>G	ENSP00000509770.1:p.Phe424Cys
ENST00000693763.1:n.2383T>G
ENST00000245407.8:c.1223T>G MANE Select	ENSP00000245407.3:p.Phe408Cys
ENST00000245407.7:c.1223T>G	ENSP00000245407.3:p.Phe408Cys
ENST00000435065.6:c.1295T>G	ENSP00000402760.2:p.Phe432Cys
ENST00000447841.5:c.112-1573T>G
ENST00000448810.5:c.485T>G
ENST00000461013.5:n.8645T>G
ENST00000475308.1:n.1901T>G
ENST00000479605.5:n.326T>G
NM_001308122.1:c.1295T>G	NP_001295051.1:p.Phe432Cys
NM_003060.3:c.1223T>G	NP_003051.1:p.Phe408Cys
XM_011543590.1:c.605T>G	XP_011541892.1:p.Phe202Cys
XR_427718.1:n.1583T>G
XR_948290.1:n.1394-1573T>G
XR_948291.1:n.1577T>G
XM_011543590.2:c.605T>G	XP_011541892.1:p.Phe202Cys
XM_017009778.2:c.695T>G	XP_016865267.1:p.Phe232Cys
XR_001742215.1:n.1478T>G
XR_001742216.1:n.1497T>G
XR_427718.2:n.1583T>G
XR_948290.2:n.1394-1573T>G
XR_948291.2:n.1577T>G
NM_003060.4:c.1223T>G MANE Select	NP_003051.1:p.Phe408Cys
NM_001308122.2:c.1295T>G	NP_001295051.1:p.Phe432Cys