Canonical Allele Identifier: CA360805042

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721075C>G (hg19) ; chr5:g.132385383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385383C>G , CM000667.2:g.132385383C>G	GRCh38
NC_000005.9:g.131721075C>G , CM000667.1:g.131721075C>G	GRCh37
NC_000005.8:g.131748974C>G	NCBI36
NG_008982.1:g.20675C>G
NG_008982.2:g.20680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1069C>G	ENSP00000388838.2:n.665+1069C>G
ENST00000435065.7:c.780C>G	ENSP00000402760.2:p.Cys260Trp
ENST00000448810.6:c.708C>G	ENSP00000401860.2:p.Cys236Trp
ENST00000686757.1:c.727C>G	ENSP00000510721.1:p.His243Asp
ENST00000687740.1:n.1868C>G
ENST00000688151.1:n.1900C>G
ENST00000689271.1:c.671+1063C>G	ENSP00000510797.1:n.671+1063C>G
ENST00000690900.1:c.679C>G	ENSP00000510703.1:p.His227Asp
ENST00000692212.1:n.534C>G
ENST00000692355.1:c.204+1082C>G
ENST00000692413.1:c.727C>G	ENSP00000509374.1:p.His243Asp
ENST00000692825.1:c.776C>G	ENSP00000509447.1:n.776C>G
ENST00000693308.1:c.721C>G	ENSP00000509770.1:p.His241Asp
ENST00000693763.1:n.1868C>G
ENST00000245407.8:c.708C>G MANE Select	ENSP00000245407.3:p.Cys236Trp
ENST00000245407.7:c.708C>G	ENSP00000245407.3:p.Cys236Trp
ENST00000415928.5:c.477C>G	ENSP00000388838.1:p.Cys159Trp
ENST00000435065.6:c.780C>G	ENSP00000402760.2:p.Cys260Trp
ENST00000437841.6:c.*23C>G	ENSP00000400553.1:n.*23C>G
ENST00000448810.5:c.56C>G
ENST00000461013.5:n.8130C>G
NM_001308122.1:c.780C>G	NP_001295051.1:p.Cys260Trp
NM_003060.3:c.708C>G	NP_003051.1:p.Cys236Trp
XM_011543590.1:c.90C>G	XP_011541892.1:p.Cys30Trp
XR_427718.1:n.1068C>G
XR_948290.1:n.1049C>G
XR_948291.1:n.1062C>G
XM_011543590.2:c.90C>G	XP_011541892.1:p.Cys30Trp
XM_017009778.2:c.180C>G	XP_016865267.1:p.Cys60Trp
XR_001742215.1:n.1049C>G
XR_001742216.1:n.1068C>G
XR_427718.2:n.1068C>G
XR_948290.2:n.1049C>G
XR_948291.2:n.1062C>G
NM_003060.4:c.708C>G MANE Select	NP_003051.1:p.Cys236Trp
NM_001308122.2:c.780C>G	NP_001295051.1:p.Cys260Trp