Canonical Allele Identifier: CA446338495

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726493G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390801G>T , CM000667.2:g.132390801G>T	GRCh38
NC_000005.9:g.131726493G>T , CM000667.1:g.131726493G>T	GRCh37
NC_000005.8:g.131754392G>T	NCBI36
NG_008982.1:g.26093G>T
NG_008982.2:g.26098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1005G>T	ENSP00000388838.2:p.Val335=
ENST00000435065.7:c.1236G>T	ENSP00000402760.2:p.Val412=
ENST00000448810.6:c.*16G>T	ENSP00000401860.2:n.*16G>T
ENST00000685543.1:n.1305G>T
ENST00000686757.1:c.*328G>T	ENSP00000510721.1:n.*328G>T
ENST00000687740.1:n.3849G>T
ENST00000688151.1:n.2474G>T
ENST00000689271.1:c.1011G>T	ENSP00000510797.1:p.Val337=
ENST00000690900.1:c.*328G>T	ENSP00000510703.1:n.*328G>T
ENST00000692212.1:n.2776G>T
ENST00000692355.1:c.417G>T
ENST00000692413.1:c.1146G>T	ENSP00000509374.1:p.Val382=
ENST00000692825.1:c.1232G>T	ENSP00000509447.1:n.1232G>T
ENST00000693308.1:c.1212G>T	ENSP00000509770.1:p.Val404=
ENST00000693763.1:n.2324G>T
ENST00000245407.8:c.1164G>T MANE Select	ENSP00000245407.3:p.Val388=
ENST00000245407.7:c.1164G>T	ENSP00000245407.3:p.Val388=
ENST00000435065.6:c.1236G>T	ENSP00000402760.2:p.Val412=
ENST00000447841.5:c.112-1632G>T
ENST00000448810.5:c.426G>T
ENST00000461013.5:n.8586G>T
ENST00000475308.1:n.1842G>T
ENST00000479605.5:n.267G>T
NM_001308122.1:c.1236G>T	NP_001295051.1:p.Val412=
NM_003060.3:c.1164G>T	NP_003051.1:p.Val388=
XM_011543590.1:c.546G>T	XP_011541892.1:p.Val182=
XR_427718.1:n.1524G>T
XR_948290.1:n.1394-1632G>T
XR_948291.1:n.1518G>T
XM_011543590.2:c.546G>T	XP_011541892.1:p.Val182=
XM_017009778.2:c.636G>T	XP_016865267.1:p.Val212=
XR_001742215.1:n.1419G>T
XR_001742216.1:n.1438G>T
XR_427718.2:n.1524G>T
XR_948290.2:n.1394-1632G>T
XR_948291.2:n.1518G>T
NM_003060.4:c.1164G>T MANE Select	NP_003051.1:p.Val388=
NM_001308122.2:c.1236G>T	NP_001295051.1:p.Val412=