Canonical Allele Identifier: CA446338648

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726505G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390813G>T , CM000667.2:g.132390813G>T	GRCh38
NC_000005.9:g.131726505G>T , CM000667.1:g.131726505G>T	GRCh37
NC_000005.8:g.131754404G>T	NCBI36
NG_008982.1:g.26105G>T
NG_008982.2:g.26110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1017G>T	ENSP00000388838.2:p.Leu339=
ENST00000435065.7:c.1248G>T	ENSP00000402760.2:p.Leu416=
ENST00000448810.6:c.*28G>T	ENSP00000401860.2:n.*28G>T
ENST00000685543.1:n.1317G>T
ENST00000686757.1:c.*340G>T	ENSP00000510721.1:n.*340G>T
ENST00000687740.1:n.3861G>T
ENST00000688151.1:n.2486G>T
ENST00000689271.1:c.1023G>T	ENSP00000510797.1:p.Leu341=
ENST00000690900.1:c.*340G>T	ENSP00000510703.1:n.*340G>T
ENST00000692212.1:n.2788G>T
ENST00000692355.1:c.429G>T
ENST00000692413.1:c.1158G>T	ENSP00000509374.1:p.Leu386=
ENST00000692825.1:c.1244G>T	ENSP00000509447.1:n.1244G>T
ENST00000693308.1:c.1224G>T	ENSP00000509770.1:p.Leu408=
ENST00000693763.1:n.2336G>T
ENST00000245407.8:c.1176G>T MANE Select	ENSP00000245407.3:p.Leu392=
ENST00000245407.7:c.1176G>T	ENSP00000245407.3:p.Leu392=
ENST00000435065.6:c.1248G>T	ENSP00000402760.2:p.Leu416=
ENST00000447841.5:c.112-1620G>T
ENST00000448810.5:c.438G>T
ENST00000461013.5:n.8598G>T
ENST00000475308.1:n.1854G>T
ENST00000479605.5:n.279G>T
NM_001308122.1:c.1248G>T	NP_001295051.1:p.Leu416=
NM_003060.3:c.1176G>T	NP_003051.1:p.Leu392=
XM_011543590.1:c.558G>T	XP_011541892.1:p.Leu186=
XR_427718.1:n.1536G>T
XR_948290.1:n.1394-1620G>T
XR_948291.1:n.1530G>T
XM_011543590.2:c.558G>T	XP_011541892.1:p.Leu186=
XM_017009778.2:c.648G>T	XP_016865267.1:p.Leu216=
XR_001742215.1:n.1431G>T
XR_001742216.1:n.1450G>T
XR_427718.2:n.1536G>T
XR_948290.2:n.1394-1620G>T
XR_948291.2:n.1530G>T
NM_003060.4:c.1176G>T MANE Select	NP_003051.1:p.Leu392=
NM_001308122.2:c.1248G>T	NP_001295051.1:p.Leu416=