Canonical Allele Identifier: CA360807493

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726414C>G (hg19) ; chr5:g.132390722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390722C>G , CM000667.2:g.132390722C>G	GRCh38
NC_000005.9:g.131726414C>G , CM000667.1:g.131726414C>G	GRCh37
NC_000005.8:g.131754313C>G	NCBI36
NG_008982.1:g.26014C>G
NG_008982.2:g.26019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.926C>G	ENSP00000388838.2:p.Ser309Trp
ENST00000435065.7:c.1157C>G	ENSP00000402760.2:p.Ser386Trp
ENST00000448810.6:c.1053-54C>G	ENSP00000401860.2:n.1053-54C>G
ENST00000685543.1:n.1226C>G
ENST00000686757.1:c.*249C>G	ENSP00000510721.1:n.*249C>G
ENST00000687740.1:n.3770C>G
ENST00000688151.1:n.2395C>G
ENST00000689271.1:c.932C>G	ENSP00000510797.1:p.Ser311Trp
ENST00000690900.1:c.*249C>G	ENSP00000510703.1:n.*249C>G
ENST00000692212.1:n.2697C>G
ENST00000692355.1:c.338C>G
ENST00000692413.1:c.1067C>G	ENSP00000509374.1:p.Ser356Trp
ENST00000692825.1:c.1153C>G	ENSP00000509447.1:n.1153C>G
ENST00000693308.1:c.1133C>G	ENSP00000509770.1:p.Ser378Trp
ENST00000693763.1:n.2245C>G
ENST00000245407.8:c.1085C>G MANE Select	ENSP00000245407.3:p.Ser362Trp
ENST00000245407.7:c.1085C>G	ENSP00000245407.3:p.Ser362Trp
ENST00000435065.6:c.1157C>G	ENSP00000402760.2:p.Ser386Trp
ENST00000447841.5:c.111+1701C>G
ENST00000448810.5:c.401-54C>G
ENST00000461013.5:n.8507C>G
ENST00000475308.1:n.1763C>G
ENST00000479605.5:n.188C>G
NM_001308122.1:c.1157C>G	NP_001295051.1:p.Ser386Trp
NM_003060.3:c.1085C>G	NP_003051.1:p.Ser362Trp
XM_011543590.1:c.467C>G	XP_011541892.1:p.Ser156Trp
XR_427718.1:n.1445C>G
XR_948290.1:n.1393+1701C>G
XR_948291.1:n.1439C>G
XM_011543590.2:c.467C>G	XP_011541892.1:p.Ser156Trp
XM_017009778.2:c.557C>G	XP_016865267.1:p.Ser186Trp
XR_001742215.1:n.1394-54C>G
XR_001742216.1:n.1413-54C>G
XR_427718.2:n.1445C>G
XR_948290.2:n.1393+1701C>G
XR_948291.2:n.1439C>G
NM_003060.4:c.1085C>G MANE Select	NP_003051.1:p.Ser362Trp
NM_001308122.2:c.1157C>G	NP_001295051.1:p.Ser386Trp