Canonical Allele Identifier: CA360807407
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs1580892172

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390703G>A , CM000667.2:g.132390703G>A GRCh38
NC_000005.9:g.131726395G>A , CM000667.1:g.131726395G>A GRCh37
NC_000005.8:g.131754294G>A NCBI36
NG_008982.1:g.25995G>A
NG_008982.2:g.26000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.907G>A ENSP00000388838.2:p.Val303Met
ENST00000435065.7:c.1138G>A ENSP00000402760.2:p.Val380Met
ENST00000448810.6:c.1053-73G>A ENSP00000401860.2:n.1053-73G>A
ENST00000685543.1:n.1207G>A
ENST00000686757.1:c.*230G>A ENSP00000510721.1:n.*230G>A
ENST00000687740.1:n.3751G>A
ENST00000688151.1:n.2376G>A
ENST00000689271.1:c.913G>A ENSP00000510797.1:p.Val305Met
ENST00000690900.1:c.*230G>A ENSP00000510703.1:n.*230G>A
ENST00000692212.1:n.2678G>A
ENST00000692355.1:c.319G>A
ENST00000692413.1:c.1048G>A ENSP00000509374.1:p.Val350Met
ENST00000692825.1:c.1134G>A ENSP00000509447.1:n.1134G>A
ENST00000693308.1:c.1114G>A ENSP00000509770.1:p.Val372Met
ENST00000693763.1:n.2226G>A
ENST00000245407.8:c.1066G>A MANE Select ENSP00000245407.3:p.Val356Met
ENST00000245407.7:c.1066G>A ENSP00000245407.3:p.Val356Met
ENST00000435065.6:c.1138G>A ENSP00000402760.2:p.Val380Met
ENST00000447841.5:c.111+1682G>A
ENST00000448810.5:c.401-73G>A
ENST00000461013.5:n.8488G>A
ENST00000475308.1:n.1744G>A
ENST00000479605.5:n.169G>A
NM_001308122.1:c.1138G>A NP_001295051.1:p.Val380Met
NM_003060.3:c.1066G>A NP_003051.1:p.Val356Met
XM_011543590.1:c.448G>A XP_011541892.1:p.Val150Met
XR_427718.1:n.1426G>A
XR_948290.1:n.1393+1682G>A
XR_948291.1:n.1420G>A
XM_011543590.2:c.448G>A XP_011541892.1:p.Val150Met
XM_017009778.2:c.538G>A XP_016865267.1:p.Val180Met
XR_001742215.1:n.1394-73G>A
XR_001742216.1:n.1413-73G>A
XR_427718.2:n.1426G>A
XR_948290.2:n.1393+1682G>A
XR_948291.2:n.1420G>A
NM_003060.4:c.1066G>A MANE Select NP_003051.1:p.Val356Met
NM_001308122.2:c.1138G>A NP_001295051.1:p.Val380Met