Canonical Allele Identifier: CA342677

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392505A>G , CM000667.2:g.132392505A>G	GRCh38
NC_000005.9:g.131728197A>G , CM000667.1:g.131728197A>G	GRCh37
NC_000005.8:g.131756096A>G	NCBI36
NG_008982.1:g.27797A>G
NG_008982.2:g.27802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1181A>G	ENSP00000388838.2:p.Tyr394Cys
ENST00000435065.7:c.1412A>G	ENSP00000402760.2:p.Tyr471Cys
ENST00000448810.6:c.*192A>G	ENSP00000401860.2:n.*192A>G
ENST00000685543.1:n.1481A>G
ENST00000686757.1:c.*504A>G	ENSP00000510721.1:n.*504A>G
ENST00000687740.1:n.4025A>G
ENST00000688151.1:n.2650A>G
ENST00000689271.1:c.1187A>G	ENSP00000510797.1:p.Tyr396Cys
ENST00000690900.1:c.*504A>G	ENSP00000510703.1:n.*504A>G
ENST00000692212.1:n.4480A>G
ENST00000692355.1:c.593A>G
ENST00000692413.1:c.1322A>G	ENSP00000509374.1:p.Tyr441Cys
ENST00000692825.1:c.1408A>G	ENSP00000509447.1:n.1408A>G
ENST00000693308.1:c.1388A>G	ENSP00000509770.1:p.Tyr463Cys
ENST00000693763.1:n.2500A>G
ENST00000245407.8:c.1340A>G MANE Select	ENSP00000245407.3:p.Tyr447Cys
ENST00000245407.7:c.1340A>G	ENSP00000245407.3:p.Tyr447Cys
ENST00000435065.6:c.1412A>G	ENSP00000402760.2:p.Tyr471Cys
ENST00000447841.5:c.184A>G
ENST00000448810.5:c.602A>G
ENST00000461013.5:n.8762A>G
ENST00000475308.1:n.2018A>G
ENST00000479605.5:n.443A>G
NM_001308122.1:c.1412A>G	NP_001295051.1:p.Tyr471Cys
NM_003060.3:c.1340A>G	NP_003051.1:p.Tyr447Cys
XM_011543590.1:c.722A>G	XP_011541892.1:p.Tyr241Cys
XR_948290.1:n.1466A>G
XM_011543590.2:c.722A>G	XP_011541892.1:p.Tyr241Cys
XM_017009778.2:c.812A>G	XP_016865267.1:p.Tyr271Cys
XR_001742215.1:n.1595A>G
XR_001742216.1:n.1614A>G
XR_427718.2:n.1700A>G
XR_948290.2:n.1466A>G
XR_948291.2:n.1694A>G
NM_003060.4:c.1340A>G MANE Select	NP_003051.1:p.Tyr447Cys
NM_001308122.2:c.1412A>G	NP_001295051.1:p.Tyr471Cys