Canonical Allele Identifier: CA2768433123

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390955G>T , CM000667.2:g.132390955G>T	GRCh38
NC_000005.9:g.131726647G>T , CM000667.1:g.131726647G>T	GRCh37
NC_000005.8:g.131754546G>T	NCBI36
NG_008982.1:g.26247G>T
NG_008982.2:g.26252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1108+51G>T	ENSP00000388838.2:n.1108+51G>T
ENST00000435065.7:c.1339+51G>T	ENSP00000402760.2:n.1339+51G>T
ENST00000448810.6:c.*119+51G>T	ENSP00000401860.2:n.*119+51G>T
ENST00000685543.1:n.1408+51G>T
ENST00000686757.1:c.*431+51G>T	ENSP00000510721.1:n.*431+51G>T
ENST00000687740.1:n.3952+51G>T
ENST00000688151.1:n.2577+51G>T
ENST00000689271.1:c.1114+51G>T	ENSP00000510797.1:n.1114+51G>T
ENST00000690900.1:c.*431+51G>T	ENSP00000510703.1:n.*431+51G>T
ENST00000692212.1:n.2930G>T
ENST00000692355.1:c.520+51G>T
ENST00000692413.1:c.1249+51G>T	ENSP00000509374.1:n.1249+51G>T
ENST00000692825.1:c.1335+51G>T	ENSP00000509447.1:n.1335+51G>T
ENST00000693308.1:c.1315+51G>T	ENSP00000509770.1:n.1315+51G>T
ENST00000693763.1:n.2427+51G>T
ENST00000245407.8:c.1267+51G>T MANE Select	ENSP00000245407.3:n.1267+51G>T
ENST00000245407.7:c.1267+51G>T	ENSP00000245407.3:n.1267+51G>T
ENST00000435065.6:c.1339+51G>T	ENSP00000402760.2:n.1339+51G>T
ENST00000447841.5:c.112-1478G>T
ENST00000448810.5:c.529+51G>T
ENST00000461013.5:n.8689+51G>T
ENST00000475308.1:n.1945+51G>T
ENST00000479605.5:n.370+51G>T
NM_001308122.1:c.1339+51G>T	NP_001295051.1:n.1339+51G>T
NM_003060.3:c.1267+51G>T	NP_003051.1:n.1267+51G>T
XM_011543590.1:c.649+51G>T	XP_011541892.1:n.649+51G>T
XR_427718.1:n.1627+51G>T
XR_948290.1:n.1394-1478G>T
XR_948291.1:n.1621+51G>T
XM_011543590.2:c.649+51G>T	XP_011541892.1:n.649+51G>T
XM_017009778.2:c.739+51G>T	XP_016865267.1:n.739+51G>T
XR_001742215.1:n.1522+51G>T
XR_001742216.1:n.1541+51G>T
XR_427718.2:n.1627+51G>T
XR_948290.2:n.1394-1478G>T
XR_948291.2:n.1621+51G>T
NM_003060.4:c.1267+51G>T MANE Select	NP_003051.1:n.1267+51G>T
NM_001308122.2:c.1339+51G>T	NP_001295051.1:n.1339+51G>T