Canonical Allele Identifier: CA446330079
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721021G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385329G>T , CM000667.2:g.132385329G>T GRCh38
NC_000005.9:g.131721021G>T , CM000667.1:g.131721021G>T GRCh37
NC_000005.8:g.131748920G>T NCBI36
NG_008982.1:g.20621G>T
NG_008982.2:g.20626G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1015G>T ENSP00000388838.2:n.665+1015G>T
ENST00000435065.7:c.726G>T ENSP00000402760.2:p.Gly242=
ENST00000448810.6:c.654G>T ENSP00000401860.2:p.Gly218=
ENST00000686757.1:c.673G>T ENSP00000510721.1:p.Asp225Tyr
ENST00000687740.1:n.1814G>T
ENST00000688151.1:n.1846G>T
ENST00000689271.1:c.671+1009G>T ENSP00000510797.1:n.671+1009G>T
ENST00000690900.1:c.672-47G>T ENSP00000510703.1:n.672-47G>T
ENST00000692212.1:n.480G>T
ENST00000692355.1:c.204+1028G>T
ENST00000692413.1:c.673G>T ENSP00000509374.1:p.Asp225Tyr
ENST00000692825.1:c.722G>T ENSP00000509447.1:n.722G>T
ENST00000693308.1:c.667G>T ENSP00000509770.1:p.Asp223Tyr
ENST00000693763.1:n.1814G>T
ENST00000245407.8:c.654G>T MANE Select ENSP00000245407.3:p.Gly218=
ENST00000245407.7:c.654G>T ENSP00000245407.3:p.Gly218=
ENST00000415928.5:c.423G>T ENSP00000388838.1:p.Gly141=
ENST00000435065.6:c.726G>T ENSP00000402760.2:p.Gly242=
ENST00000437841.6:c.395G>T ENSP00000400553.1:p.Gly132Val
ENST00000448810.5:c.2G>T
ENST00000461013.5:n.8076G>T
NM_001308122.1:c.726G>T NP_001295051.1:p.Gly242=
NM_003060.3:c.654G>T NP_003051.1:p.Gly218=
XM_011543590.1:c.36G>T XP_011541892.1:p.Gly12=
XR_427718.1:n.1014G>T
XR_948290.1:n.995G>T
XR_948291.1:n.1008G>T
XM_011543590.2:c.36G>T XP_011541892.1:p.Gly12=
XM_017009778.2:c.126G>T XP_016865267.1:p.Gly42=
XR_001742215.1:n.995G>T
XR_001742216.1:n.1014G>T
XR_427718.2:n.1014G>T
XR_948290.2:n.995G>T
XR_948291.2:n.1008G>T
NM_003060.4:c.654G>T MANE Select NP_003051.1:p.Gly218=
NM_001308122.2:c.726G>T NP_001295051.1:p.Gly242=