Canonical Allele Identifier: CA360807520

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726429A>T (hg19) ; chr5:g.132390737A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390737A>T , CM000667.2:g.132390737A>T	GRCh38
NC_000005.9:g.131726429A>T , CM000667.1:g.131726429A>T	GRCh37
NC_000005.8:g.131754328A>T	NCBI36
NG_008982.1:g.26029A>T
NG_008982.2:g.26034A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.941A>T	ENSP00000388838.2:p.Asn314Ile
ENST00000435065.7:c.1172A>T	ENSP00000402760.2:p.Asn391Ile
ENST00000448810.6:c.1053-39A>T	ENSP00000401860.2:n.1053-39A>T
ENST00000685543.1:n.1241A>T
ENST00000686757.1:c.*264A>T	ENSP00000510721.1:n.*264A>T
ENST00000687740.1:n.3785A>T
ENST00000688151.1:n.2410A>T
ENST00000689271.1:c.947A>T	ENSP00000510797.1:p.Asn316Ile
ENST00000690900.1:c.*264A>T	ENSP00000510703.1:n.*264A>T
ENST00000692212.1:n.2712A>T
ENST00000692355.1:c.353A>T
ENST00000692413.1:c.1082A>T	ENSP00000509374.1:p.Asn361Ile
ENST00000692825.1:c.1168A>T	ENSP00000509447.1:n.1168A>T
ENST00000693308.1:c.1148A>T	ENSP00000509770.1:p.Asn383Ile
ENST00000693763.1:n.2260A>T
ENST00000245407.8:c.1100A>T MANE Select	ENSP00000245407.3:p.Asn367Ile
ENST00000245407.7:c.1100A>T	ENSP00000245407.3:p.Asn367Ile
ENST00000435065.6:c.1172A>T	ENSP00000402760.2:p.Asn391Ile
ENST00000447841.5:c.112-1696A>T
ENST00000448810.5:c.401-39A>T
ENST00000461013.5:n.8522A>T
ENST00000475308.1:n.1778A>T
ENST00000479605.5:n.203A>T
NM_001308122.1:c.1172A>T	NP_001295051.1:p.Asn391Ile
NM_003060.3:c.1100A>T	NP_003051.1:p.Asn367Ile
XM_011543590.1:c.482A>T	XP_011541892.1:p.Asn161Ile
XR_427718.1:n.1460A>T
XR_948290.1:n.1394-1696A>T
XR_948291.1:n.1454A>T
XM_011543590.2:c.482A>T	XP_011541892.1:p.Asn161Ile
XM_017009778.2:c.572A>T	XP_016865267.1:p.Asn191Ile
XR_001742215.1:n.1394-39A>T
XR_001742216.1:n.1413-39A>T
XR_427718.2:n.1460A>T
XR_948290.2:n.1394-1696A>T
XR_948291.2:n.1454A>T
NM_003060.4:c.1100A>T MANE Select	NP_003051.1:p.Asn367Ile
NM_001308122.2:c.1172A>T	NP_001295051.1:p.Asn391Ile