Canonical Allele Identifier: CA360809395

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392611C>G , CM000667.2:g.132392611C>G	GRCh38
NC_000005.9:g.131728303C>G , CM000667.1:g.131728303C>G	GRCh37
NC_000005.8:g.131756202C>G	NCBI36
NG_008982.1:g.27903C>G
NG_008982.2:g.27908C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1446C>G MANE Select	NP_003051.1:p.Tyr482Ter
ENST00000245407.8:c.1446C>G MANE Select	ENSP00000245407.3:p.Tyr482Ter
NM_001308122.1:c.1518C>G	NP_001295051.1:p.Tyr506Ter
NM_001308122.2:c.1518C>G	NP_001295051.1:p.Tyr506Ter
NM_003060.3:c.1446C>G	NP_003051.1:p.Tyr482Ter
ENST00000245407.7:c.1446C>G	ENSP00000245407.3:p.Tyr482Ter
ENST00000415928.6:c.1287C>G	ENSP00000388838.2:p.Tyr429Ter
ENST00000435065.6:c.1518C>G	ENSP00000402760.2:p.Tyr506Ter
ENST00000435065.7:c.1518C>G	ENSP00000402760.2:p.Tyr506Ter
ENST00000447841.5:c.290C>G
ENST00000448810.5:c.708C>G
ENST00000448810.6:c.*298C>G	ENSP00000401860.2:n.*298C>G
ENST00000461013.5:n.8868C>G
ENST00000475308.1:n.2124C>G
ENST00000479605.5:n.549C>G
ENST00000685543.1:n.1587C>G
ENST00000686757.1:c.*610C>G	ENSP00000510721.1:n.*610C>G
ENST00000687740.1:n.4131C>G
ENST00000688151.1:n.2756C>G
ENST00000689271.1:c.1293C>G	ENSP00000510797.1:p.Tyr431Ter
ENST00000690900.1:c.*610C>G	ENSP00000510703.1:n.*610C>G
ENST00000692212.1:n.4586C>G
ENST00000692355.1:c.699C>G
ENST00000692413.1:c.1428C>G	ENSP00000509374.1:p.Tyr476Ter
ENST00000692825.1:c.1514C>G	ENSP00000509447.1:n.1514C>G
ENST00000693308.1:c.1494C>G	ENSP00000509770.1:p.Tyr498Ter
ENST00000693763.1:n.2606C>G
XM_011543590.1:c.828C>G	XP_011541892.1:p.Tyr276Ter
XM_011543590.2:c.828C>G	XP_011541892.1:p.Tyr276Ter
XM_017009778.2:c.918C>G	XP_016865267.1:p.Tyr306Ter
XR_001742215.1:n.1701C>G
XR_001742216.1:n.1720C>G
XR_427718.2:n.1806C>G
XR_948290.1:n.1572C>G
XR_948290.2:n.1572C>G
XR_948291.2:n.1800C>G