Canonical Allele Identifier: CA446330103
Gene: SLC22A5 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1030C>G ENSP00000388838.2:n.665+1030C>G
ENST00000435065.7:c.741C>G ENSP00000402760.2:p.Gly247=
ENST00000448810.6:c.669C>G ENSP00000401860.2:p.Gly223=
ENST00000686757.1:c.688C>G ENSP00000510721.1:p.Gln230Glu
ENST00000687740.1:n.1829C>G
ENST00000688151.1:n.1861C>G
ENST00000689271.1:c.671+1024C>G ENSP00000510797.1:n.671+1024C>G
ENST00000690900.1:c.672-32C>G ENSP00000510703.1:n.672-32C>G
ENST00000692212.1:n.495C>G
ENST00000692355.1:c.204+1043C>G
ENST00000692413.1:c.688C>G ENSP00000509374.1:p.Gln230Glu
ENST00000692825.1:c.737C>G ENSP00000509447.1:n.737C>G
ENST00000693308.1:c.682C>G ENSP00000509770.1:p.Gln228Glu
ENST00000693763.1:n.1829C>G
ENST00000245407.8:c.669C>G MANE Select ENSP00000245407.3:p.Gly223=
ENST00000245407.7:c.669C>G ENSP00000245407.3:p.Gly223=
ENST00000415928.5:c.438C>G ENSP00000388838.1:p.Gly146=
ENST00000435065.6:c.741C>G ENSP00000402760.2:p.Gly247=
ENST00000437841.6:c.410C>G ENSP00000400553.1:p.Ala137Gly
ENST00000448810.5:c.17C>G
ENST00000461013.5:n.8091C>G
NM_001308122.1:c.741C>G NP_001295051.1:p.Gly247=
NM_003060.3:c.669C>G NP_003051.1:p.Gly223=
XM_011543590.1:c.51C>G XP_011541892.1:p.Gly17=
XR_427718.1:n.1029C>G
XR_948290.1:n.1010C>G
XR_948291.1:n.1023C>G
XM_011543590.2:c.51C>G XP_011541892.1:p.Gly17=
XM_017009778.2:c.141C>G XP_016865267.1:p.Gly47=
XR_001742215.1:n.1010C>G
XR_001742216.1:n.1029C>G
XR_427718.2:n.1029C>G
XR_948290.2:n.1010C>G
XR_948291.2:n.1023C>G
NM_003060.4:c.669C>G MANE Select NP_003051.1:p.Gly223=
NM_001308122.2:c.741C>G NP_001295051.1:p.Gly247=