Canonical Allele Identifier: CA446330106
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721036C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385344C>A , CM000667.2:g.132385344C>A GRCh38
NC_000005.9:g.131721036C>A , CM000667.1:g.131721036C>A GRCh37
NC_000005.8:g.131748935C>A NCBI36
NG_008982.1:g.20636C>A
NG_008982.2:g.20641C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1030C>A ENSP00000388838.2:n.665+1030C>A
ENST00000435065.7:c.741C>A ENSP00000402760.2:p.Gly247=
ENST00000448810.6:c.669C>A ENSP00000401860.2:p.Gly223=
ENST00000686757.1:c.688C>A ENSP00000510721.1:p.Gln230Lys
ENST00000687740.1:n.1829C>A
ENST00000688151.1:n.1861C>A
ENST00000689271.1:c.671+1024C>A ENSP00000510797.1:n.671+1024C>A
ENST00000690900.1:c.672-32C>A ENSP00000510703.1:n.672-32C>A
ENST00000692212.1:n.495C>A
ENST00000692355.1:c.204+1043C>A
ENST00000692413.1:c.688C>A ENSP00000509374.1:p.Gln230Lys
ENST00000692825.1:c.737C>A ENSP00000509447.1:n.737C>A
ENST00000693308.1:c.682C>A ENSP00000509770.1:p.Gln228Lys
ENST00000693763.1:n.1829C>A
ENST00000245407.8:c.669C>A MANE Select ENSP00000245407.3:p.Gly223=
ENST00000245407.7:c.669C>A ENSP00000245407.3:p.Gly223=
ENST00000415928.5:c.438C>A ENSP00000388838.1:p.Gly146=
ENST00000435065.6:c.741C>A ENSP00000402760.2:p.Gly247=
ENST00000437841.6:c.410C>A ENSP00000400553.1:p.Ala137Glu
ENST00000448810.5:c.17C>A
ENST00000461013.5:n.8091C>A
NM_001308122.1:c.741C>A NP_001295051.1:p.Gly247=
NM_003060.3:c.669C>A NP_003051.1:p.Gly223=
XM_011543590.1:c.51C>A XP_011541892.1:p.Gly17=
XR_427718.1:n.1029C>A
XR_948290.1:n.1010C>A
XR_948291.1:n.1023C>A
XM_011543590.2:c.51C>A XP_011541892.1:p.Gly17=
XM_017009778.2:c.141C>A XP_016865267.1:p.Gly47=
XR_001742215.1:n.1010C>A
XR_001742216.1:n.1029C>A
XR_427718.2:n.1029C>A
XR_948290.2:n.1010C>A
XR_948291.2:n.1023C>A
NM_003060.4:c.669C>A MANE Select NP_003051.1:p.Gly223=
NM_001308122.2:c.741C>A NP_001295051.1:p.Gly247=