Canonical Allele Identifier: CA446343233
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131728213G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392521G>A , CM000667.2:g.132392521G>A GRCh38
NC_000005.9:g.131728213G>A , CM000667.1:g.131728213G>A GRCh37
NC_000005.8:g.131756112G>A NCBI36
NG_008982.1:g.27813G>A
NG_008982.2:g.27818G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1197G>A ENSP00000388838.2:p.Glu399=
ENST00000435065.7:c.1428G>A ENSP00000402760.2:p.Glu476=
ENST00000448810.6:c.*208G>A ENSP00000401860.2:n.*208G>A
ENST00000685543.1:n.1497G>A
ENST00000686757.1:c.*520G>A ENSP00000510721.1:n.*520G>A
ENST00000687740.1:n.4041G>A
ENST00000688151.1:n.2666G>A
ENST00000689271.1:c.1203G>A ENSP00000510797.1:p.Glu401=
ENST00000690900.1:c.*520G>A ENSP00000510703.1:n.*520G>A
ENST00000692212.1:n.4496G>A
ENST00000692355.1:c.609G>A
ENST00000692413.1:c.1338G>A ENSP00000509374.1:p.Glu446=
ENST00000692825.1:c.1424G>A ENSP00000509447.1:n.1424G>A
ENST00000693308.1:c.1404G>A ENSP00000509770.1:p.Glu468=
ENST00000693763.1:n.2516G>A
ENST00000245407.8:c.1356G>A MANE Select ENSP00000245407.3:p.Glu452=
ENST00000245407.7:c.1356G>A ENSP00000245407.3:p.Glu452=
ENST00000435065.6:c.1428G>A ENSP00000402760.2:p.Glu476=
ENST00000447841.5:c.200G>A
ENST00000448810.5:c.618G>A
ENST00000461013.5:n.8778G>A
ENST00000475308.1:n.2034G>A
ENST00000479605.5:n.459G>A
NM_001308122.1:c.1428G>A NP_001295051.1:p.Glu476=
NM_003060.3:c.1356G>A NP_003051.1:p.Glu452=
XM_011543590.1:c.738G>A XP_011541892.1:p.Glu246=
XR_948290.1:n.1482G>A
XM_011543590.2:c.738G>A XP_011541892.1:p.Glu246=
XM_017009778.2:c.828G>A XP_016865267.1:p.Glu276=
XR_001742215.1:n.1611G>A
XR_001742216.1:n.1630G>A
XR_427718.2:n.1716G>A
XR_948290.2:n.1482G>A
XR_948291.2:n.1710G>A
NM_003060.4:c.1356G>A MANE Select NP_003051.1:p.Glu452=
NM_001308122.2:c.1428G>A NP_001295051.1:p.Glu476=