Canonical Allele Identifier: CA446343123
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs2126791430
MyVariant Identifiers: chr5:g.131728201G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392509G>T , CM000667.2:g.132392509G>T GRCh38
NC_000005.9:g.131728201G>T , CM000667.1:g.131728201G>T GRCh37
NC_000005.8:g.131756100G>T NCBI36
NG_008982.1:g.27801G>T
NG_008982.2:g.27806G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1185G>T ENSP00000388838.2:p.Val395=
ENST00000435065.7:c.1416G>T ENSP00000402760.2:p.Val472=
ENST00000448810.6:c.*196G>T ENSP00000401860.2:n.*196G>T
ENST00000685543.1:n.1485G>T
ENST00000686757.1:c.*508G>T ENSP00000510721.1:n.*508G>T
ENST00000687740.1:n.4029G>T
ENST00000688151.1:n.2654G>T
ENST00000689271.1:c.1191G>T ENSP00000510797.1:p.Val397=
ENST00000690900.1:c.*508G>T ENSP00000510703.1:n.*508G>T
ENST00000692212.1:n.4484G>T
ENST00000692355.1:c.597G>T
ENST00000692413.1:c.1326G>T ENSP00000509374.1:p.Val442=
ENST00000692825.1:c.1412G>T ENSP00000509447.1:n.1412G>T
ENST00000693308.1:c.1392G>T ENSP00000509770.1:p.Val464=
ENST00000693763.1:n.2504G>T
ENST00000245407.8:c.1344G>T MANE Select ENSP00000245407.3:p.Val448=
ENST00000245407.7:c.1344G>T ENSP00000245407.3:p.Val448=
ENST00000435065.6:c.1416G>T ENSP00000402760.2:p.Val472=
ENST00000447841.5:c.188G>T
ENST00000448810.5:c.606G>T
ENST00000461013.5:n.8766G>T
ENST00000475308.1:n.2022G>T
ENST00000479605.5:n.447G>T
NM_001308122.1:c.1416G>T NP_001295051.1:p.Val472=
NM_003060.3:c.1344G>T NP_003051.1:p.Val448=
XM_011543590.1:c.726G>T XP_011541892.1:p.Val242=
XR_948290.1:n.1470G>T
XM_011543590.2:c.726G>T XP_011541892.1:p.Val242=
XM_017009778.2:c.816G>T XP_016865267.1:p.Val272=
XR_001742215.1:n.1599G>T
XR_001742216.1:n.1618G>T
XR_427718.2:n.1704G>T
XR_948290.2:n.1470G>T
XR_948291.2:n.1698G>T
NM_003060.4:c.1344G>T MANE Select NP_003051.1:p.Val448=
NM_001308122.2:c.1416G>T NP_001295051.1:p.Val472=