Canonical Allele Identifier: CA342681

Gene: SLC22A5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392565C>G , CM000667.2:g.132392565C>G	GRCh38
NC_000005.9:g.131728257C>G , CM000667.1:g.131728257C>G	GRCh37
NC_000005.8:g.131756156C>G	NCBI36
NG_008982.1:g.27857C>G
NG_008982.2:g.27862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1241C>G	ENSP00000388838.2:p.Ser414Cys
ENST00000435065.7:c.1472C>G	ENSP00000402760.2:p.Ser491Cys
ENST00000448810.6:c.*252C>G	ENSP00000401860.2:n.*252C>G
ENST00000685543.1:n.1541C>G
ENST00000686757.1:c.*564C>G	ENSP00000510721.1:n.*564C>G
ENST00000687740.1:n.4085C>G
ENST00000688151.1:n.2710C>G
ENST00000689271.1:c.1247C>G	ENSP00000510797.1:p.Ser416Cys
ENST00000690900.1:c.*564C>G	ENSP00000510703.1:n.*564C>G
ENST00000692212.1:n.4540C>G
ENST00000692355.1:c.653C>G
ENST00000692413.1:c.1382C>G	ENSP00000509374.1:p.Ser461Cys
ENST00000692825.1:c.1468C>G	ENSP00000509447.1:n.1468C>G
ENST00000693308.1:c.1448C>G	ENSP00000509770.1:p.Ser483Cys
ENST00000693763.1:n.2560C>G
ENST00000245407.8:c.1400C>G MANE Select	ENSP00000245407.3:p.Ser467Cys
ENST00000245407.7:c.1400C>G	ENSP00000245407.3:p.Ser467Cys
ENST00000435065.6:c.1472C>G	ENSP00000402760.2:p.Ser491Cys
ENST00000447841.5:c.244C>G
ENST00000448810.5:c.662C>G
ENST00000461013.5:n.8822C>G
ENST00000475308.1:n.2078C>G
ENST00000479605.5:n.503C>G
NM_001308122.1:c.1472C>G	NP_001295051.1:p.Ser491Cys
NM_003060.3:c.1400C>G	NP_003051.1:p.Ser467Cys
XM_011543590.1:c.782C>G	XP_011541892.1:p.Ser261Cys
XR_948290.1:n.1526C>G
XM_011543590.2:c.782C>G	XP_011541892.1:p.Ser261Cys
XM_017009778.2:c.872C>G	XP_016865267.1:p.Ser291Cys
XR_001742215.1:n.1655C>G
XR_001742216.1:n.1674C>G
XR_427718.2:n.1760C>G
XR_948290.2:n.1526C>G
XR_948291.2:n.1754C>G
NM_003060.4:c.1400C>G MANE Select	NP_003051.1:p.Ser467Cys
NM_001308122.2:c.1472C>G	NP_001295051.1:p.Ser491Cys