Canonical Allele Identifier: CA360808784

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1216388640
• MyVariant Identifiers: chr5:g.131728205A>G (hg19) ; chr5:g.132392513A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392513A>G , CM000667.2:g.132392513A>G	GRCh38
NC_000005.9:g.131728205A>G , CM000667.1:g.131728205A>G	GRCh37
NC_000005.8:g.131756104A>G	NCBI36
NG_008982.1:g.27805A>G
NG_008982.2:g.27810A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1189A>G	ENSP00000388838.2:p.Thr397Ala
ENST00000435065.7:c.1420A>G	ENSP00000402760.2:p.Thr474Ala
ENST00000448810.6:c.*200A>G	ENSP00000401860.2:n.*200A>G
ENST00000685543.1:n.1489A>G
ENST00000686757.1:c.*512A>G	ENSP00000510721.1:n.*512A>G
ENST00000687740.1:n.4033A>G
ENST00000688151.1:n.2658A>G
ENST00000689271.1:c.1195A>G	ENSP00000510797.1:p.Thr399Ala
ENST00000690900.1:c.*512A>G	ENSP00000510703.1:n.*512A>G
ENST00000692212.1:n.4488A>G
ENST00000692355.1:c.601A>G
ENST00000692413.1:c.1330A>G	ENSP00000509374.1:p.Thr444Ala
ENST00000692825.1:c.1416A>G	ENSP00000509447.1:n.1416A>G
ENST00000693308.1:c.1396A>G	ENSP00000509770.1:p.Thr466Ala
ENST00000693763.1:n.2508A>G
ENST00000245407.8:c.1348A>G MANE Select	ENSP00000245407.3:p.Thr450Ala
ENST00000245407.7:c.1348A>G	ENSP00000245407.3:p.Thr450Ala
ENST00000435065.6:c.1420A>G	ENSP00000402760.2:p.Thr474Ala
ENST00000447841.5:c.192A>G
ENST00000448810.5:c.610A>G
ENST00000461013.5:n.8770A>G
ENST00000475308.1:n.2026A>G
ENST00000479605.5:n.451A>G
NM_001308122.1:c.1420A>G	NP_001295051.1:p.Thr474Ala
NM_003060.3:c.1348A>G	NP_003051.1:p.Thr450Ala
XM_011543590.1:c.730A>G	XP_011541892.1:p.Thr244Ala
XR_948290.1:n.1474A>G
XM_011543590.2:c.730A>G	XP_011541892.1:p.Thr244Ala
XM_017009778.2:c.820A>G	XP_016865267.1:p.Thr274Ala
XR_001742215.1:n.1603A>G
XR_001742216.1:n.1622A>G
XR_427718.2:n.1708A>G
XR_948290.2:n.1474A>G
XR_948291.2:n.1702A>G
NM_003060.4:c.1348A>G MANE Select	NP_003051.1:p.Thr450Ala
NM_001308122.2:c.1420A>G	NP_001295051.1:p.Thr474Ala