Canonical Allele Identifier: CA360807583

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726457C>G (hg19) ; chr5:g.132390765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390765C>G , CM000667.2:g.132390765C>G	GRCh38
NC_000005.9:g.131726457C>G , CM000667.1:g.131726457C>G	GRCh37
NC_000005.8:g.131754356C>G	NCBI36
NG_008982.1:g.26057C>G
NG_008982.2:g.26062C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.969C>G	ENSP00000388838.2:p.Cys323Trp
ENST00000435065.7:c.1200C>G	ENSP00000402760.2:p.Cys400Trp
ENST00000448810.6:c.1053-11C>G	ENSP00000401860.2:n.1053-11C>G
ENST00000685543.1:n.1269C>G
ENST00000686757.1:c.*292C>G	ENSP00000510721.1:n.*292C>G
ENST00000687740.1:n.3813C>G
ENST00000688151.1:n.2438C>G
ENST00000689271.1:c.975C>G	ENSP00000510797.1:p.Cys325Trp
ENST00000690900.1:c.*292C>G	ENSP00000510703.1:n.*292C>G
ENST00000692212.1:n.2740C>G
ENST00000692355.1:c.381C>G
ENST00000692413.1:c.1110C>G	ENSP00000509374.1:p.Cys370Trp
ENST00000692825.1:c.1196C>G	ENSP00000509447.1:n.1196C>G
ENST00000693308.1:c.1176C>G	ENSP00000509770.1:p.Cys392Trp
ENST00000693763.1:n.2288C>G
ENST00000245407.8:c.1128C>G MANE Select	ENSP00000245407.3:p.Cys376Trp
ENST00000245407.7:c.1128C>G	ENSP00000245407.3:p.Cys376Trp
ENST00000435065.6:c.1200C>G	ENSP00000402760.2:p.Cys400Trp
ENST00000447841.5:c.112-1668C>G
ENST00000448810.5:c.401-11C>G
ENST00000461013.5:n.8550C>G
ENST00000475308.1:n.1806C>G
ENST00000479605.5:n.231C>G
NM_001308122.1:c.1200C>G	NP_001295051.1:p.Cys400Trp
NM_003060.3:c.1128C>G	NP_003051.1:p.Cys376Trp
XM_011543590.1:c.510C>G	XP_011541892.1:p.Cys170Trp
XR_427718.1:n.1488C>G
XR_948290.1:n.1394-1668C>G
XR_948291.1:n.1482C>G
XM_011543590.2:c.510C>G	XP_011541892.1:p.Cys170Trp
XM_017009778.2:c.600C>G	XP_016865267.1:p.Cys200Trp
XR_001742215.1:n.1394-11C>G
XR_001742216.1:n.1413-11C>G
XR_427718.2:n.1488C>G
XR_948290.2:n.1394-1668C>G
XR_948291.2:n.1482C>G
NM_003060.4:c.1128C>G MANE Select	NP_003051.1:p.Cys376Trp
NM_001308122.2:c.1200C>G	NP_001295051.1:p.Cys400Trp