Canonical Allele Identifier: CA360807463

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726407G>A (hg19) ; chr5:g.132390715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390715G>A , CM000667.2:g.132390715G>A	GRCh38
NC_000005.9:g.131726407G>A , CM000667.1:g.131726407G>A	GRCh37
NC_000005.8:g.131754306G>A	NCBI36
NG_008982.1:g.26007G>A
NG_008982.2:g.26012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.919G>A	ENSP00000388838.2:p.Gly307Arg
ENST00000435065.7:c.1150G>A	ENSP00000402760.2:p.Gly384Arg
ENST00000448810.6:c.1053-61G>A	ENSP00000401860.2:n.1053-61G>A
ENST00000685543.1:n.1219G>A
ENST00000686757.1:c.*242G>A	ENSP00000510721.1:n.*242G>A
ENST00000687740.1:n.3763G>A
ENST00000688151.1:n.2388G>A
ENST00000689271.1:c.925G>A	ENSP00000510797.1:p.Gly309Arg
ENST00000690900.1:c.*242G>A	ENSP00000510703.1:n.*242G>A
ENST00000692212.1:n.2690G>A
ENST00000692355.1:c.331G>A
ENST00000692413.1:c.1060G>A	ENSP00000509374.1:p.Gly354Arg
ENST00000692825.1:c.1146G>A	ENSP00000509447.1:n.1146G>A
ENST00000693308.1:c.1126G>A	ENSP00000509770.1:p.Gly376Arg
ENST00000693763.1:n.2238G>A
ENST00000245407.8:c.1078G>A MANE Select	ENSP00000245407.3:p.Gly360Arg
ENST00000245407.7:c.1078G>A	ENSP00000245407.3:p.Gly360Arg
ENST00000435065.6:c.1150G>A	ENSP00000402760.2:p.Gly384Arg
ENST00000447841.5:c.111+1694G>A
ENST00000448810.5:c.401-61G>A
ENST00000461013.5:n.8500G>A
ENST00000475308.1:n.1756G>A
ENST00000479605.5:n.181G>A
NM_001308122.1:c.1150G>A	NP_001295051.1:p.Gly384Arg
NM_003060.3:c.1078G>A	NP_003051.1:p.Gly360Arg
XM_011543590.1:c.460G>A	XP_011541892.1:p.Gly154Arg
XR_427718.1:n.1438G>A
XR_948290.1:n.1393+1694G>A
XR_948291.1:n.1432G>A
XM_011543590.2:c.460G>A	XP_011541892.1:p.Gly154Arg
XM_017009778.2:c.550G>A	XP_016865267.1:p.Gly184Arg
XR_001742215.1:n.1394-61G>A
XR_001742216.1:n.1413-61G>A
XR_427718.2:n.1438G>A
XR_948290.2:n.1393+1694G>A
XR_948291.2:n.1432G>A
NM_003060.4:c.1078G>A MANE Select	NP_003051.1:p.Gly360Arg
NM_001308122.2:c.1150G>A	NP_001295051.1:p.Gly384Arg