Canonical Allele Identifier: CA446329667

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2030977
• ClinVar RCV Id: RCV002898723
• dbSNP Id: rs1752442501
• MyVariant Identifiers: chr5:g.131719869C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384177C>G , CM000667.2:g.132384177C>G	GRCh38
NC_000005.9:g.131719869C>G , CM000667.1:g.131719869C>G	GRCh37
NC_000005.8:g.131747768C>G	NCBI36
NG_008982.1:g.19469C>G
NG_008982.2:g.19474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.528C>G	ENSP00000388838.2:p.Thr176=
ENST00000435065.7:c.600C>G	ENSP00000402760.2:p.Thr200=
ENST00000448810.6:c.528C>G	ENSP00000401860.2:p.Thr176=
ENST00000686757.1:c.528C>G	ENSP00000510721.1:p.Thr176=
ENST00000687740.1:n.662C>G
ENST00000688151.1:n.1707C>G
ENST00000689271.1:c.528C>G	ENSP00000510797.1:p.Thr176=
ENST00000690900.1:c.528C>G	ENSP00000510703.1:p.Thr176=
ENST00000692355.1:c.80C>G
ENST00000692413.1:c.528C>G	ENSP00000509374.1:p.Thr176=
ENST00000692825.1:c.596C>G	ENSP00000509447.1:n.596C>G
ENST00000693308.1:c.528C>G	ENSP00000509770.1:p.Thr176=
ENST00000693763.1:n.662C>G
ENST00000245407.8:c.528C>G MANE Select	ENSP00000245407.3:p.Thr176=
ENST00000245407.7:c.528C>G	ENSP00000245407.3:p.Thr176=
ENST00000415928.5:c.297C>G	ENSP00000388838.1:p.Thr99=
ENST00000435065.6:c.600C>G	ENSP00000402760.2:p.Thr200=
ENST00000437841.6:c.394-1151C>G	ENSP00000400553.1:n.394-1151C>G
ENST00000461013.5:n.7950C>G
NM_001308122.1:c.600C>G	NP_001295051.1:p.Thr200=
NM_003060.3:c.528C>G	NP_003051.1:p.Thr176=
XR_427718.1:n.869C>G
XR_948290.1:n.869C>G
XR_948291.1:n.869C>G
XM_011543590.2:c.-104C>G	XP_011541892.1:n.-104C>G
XM_017009778.2:c.-1C>G	XP_016865267.1:n.-1C>G
XR_001742215.1:n.869C>G
XR_001742216.1:n.869C>G
XR_427718.2:n.869C>G
XR_948290.2:n.869C>G
XR_948291.2:n.869C>G
NM_003060.4:c.528C>G MANE Select	NP_003051.1:p.Thr176=
NM_001308122.2:c.600C>G	NP_001295051.1:p.Thr200=