Canonical Allele Identifier: CA446337832
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131726433G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390741G>A , CM000667.2:g.132390741G>A GRCh38
NC_000005.9:g.131726433G>A , CM000667.1:g.131726433G>A GRCh37
NC_000005.8:g.131754332G>A NCBI36
NG_008982.1:g.26033G>A
NG_008982.2:g.26038G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.945G>A ENSP00000388838.2:p.Leu315=
ENST00000435065.7:c.1176G>A ENSP00000402760.2:p.Leu392=
ENST00000448810.6:c.1053-35G>A ENSP00000401860.2:n.1053-35G>A
ENST00000685543.1:n.1245G>A
ENST00000686757.1:c.*268G>A ENSP00000510721.1:n.*268G>A
ENST00000687740.1:n.3789G>A
ENST00000688151.1:n.2414G>A
ENST00000689271.1:c.951G>A ENSP00000510797.1:p.Leu317=
ENST00000690900.1:c.*268G>A ENSP00000510703.1:n.*268G>A
ENST00000692212.1:n.2716G>A
ENST00000692355.1:c.357G>A
ENST00000692413.1:c.1086G>A ENSP00000509374.1:p.Leu362=
ENST00000692825.1:c.1172G>A ENSP00000509447.1:n.1172G>A
ENST00000693308.1:c.1152G>A ENSP00000509770.1:p.Leu384=
ENST00000693763.1:n.2264G>A
ENST00000245407.8:c.1104G>A MANE Select ENSP00000245407.3:p.Leu368=
ENST00000245407.7:c.1104G>A ENSP00000245407.3:p.Leu368=
ENST00000435065.6:c.1176G>A ENSP00000402760.2:p.Leu392=
ENST00000447841.5:c.112-1692G>A
ENST00000448810.5:c.401-35G>A
ENST00000461013.5:n.8526G>A
ENST00000475308.1:n.1782G>A
ENST00000479605.5:n.207G>A
NM_001308122.1:c.1176G>A NP_001295051.1:p.Leu392=
NM_003060.3:c.1104G>A NP_003051.1:p.Leu368=
XM_011543590.1:c.486G>A XP_011541892.1:p.Leu162=
XR_427718.1:n.1464G>A
XR_948290.1:n.1394-1692G>A
XR_948291.1:n.1458G>A
XM_011543590.2:c.486G>A XP_011541892.1:p.Leu162=
XM_017009778.2:c.576G>A XP_016865267.1:p.Leu192=
XR_001742215.1:n.1394-35G>A
XR_001742216.1:n.1413-35G>A
XR_427718.2:n.1464G>A
XR_948290.2:n.1394-1692G>A
XR_948291.2:n.1458G>A
NM_003060.4:c.1104G>A MANE Select NP_003051.1:p.Leu368=
NM_001308122.2:c.1176G>A NP_001295051.1:p.Leu392=