Canonical Allele Identifier: CA360808902

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392529C>G , CM000667.2:g.132392529C>G	GRCh38
NC_000005.9:g.131728221C>G , CM000667.1:g.131728221C>G	GRCh37
NC_000005.8:g.131756120C>G	NCBI36
NG_008982.1:g.27821C>G
NG_008982.2:g.27826C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1364C>G MANE Select	NP_003051.1:p.Pro455Arg
ENST00000245407.8:c.1364C>G MANE Select	ENSP00000245407.3:p.Pro455Arg
NM_001308122.1:c.1436C>G	NP_001295051.1:p.Pro479Arg
NM_001308122.2:c.1436C>G	NP_001295051.1:p.Pro479Arg
NM_003060.3:c.1364C>G	NP_003051.1:p.Pro455Arg
ENST00000245407.7:c.1364C>G	ENSP00000245407.3:p.Pro455Arg
ENST00000415928.6:c.1205C>G	ENSP00000388838.2:p.Pro402Arg
ENST00000435065.6:c.1436C>G	ENSP00000402760.2:p.Pro479Arg
ENST00000435065.7:c.1436C>G	ENSP00000402760.2:p.Pro479Arg
ENST00000447841.5:c.208C>G
ENST00000448810.5:c.626C>G
ENST00000448810.6:c.*216C>G	ENSP00000401860.2:n.*216C>G
ENST00000461013.5:n.8786C>G
ENST00000475308.1:n.2042C>G
ENST00000479605.5:n.467C>G
ENST00000685543.1:n.1505C>G
ENST00000686757.1:c.*528C>G	ENSP00000510721.1:n.*528C>G
ENST00000687740.1:n.4049C>G
ENST00000688151.1:n.2674C>G
ENST00000689271.1:c.1211C>G	ENSP00000510797.1:p.Pro404Arg
ENST00000690900.1:c.*528C>G	ENSP00000510703.1:n.*528C>G
ENST00000692212.1:n.4504C>G
ENST00000692355.1:c.617C>G
ENST00000692413.1:c.1346C>G	ENSP00000509374.1:p.Pro449Arg
ENST00000692825.1:c.1432C>G	ENSP00000509447.1:n.1432C>G
ENST00000693308.1:c.1412C>G	ENSP00000509770.1:p.Pro471Arg
ENST00000693763.1:n.2524C>G
XM_011543590.1:c.746C>G	XP_011541892.1:p.Pro249Arg
XM_011543590.2:c.746C>G	XP_011541892.1:p.Pro249Arg
XM_017009778.2:c.836C>G	XP_016865267.1:p.Pro279Arg
XR_001742215.1:n.1619C>G
XR_001742216.1:n.1638C>G
XR_427718.2:n.1724C>G
XR_948290.1:n.1490C>G
XR_948290.2:n.1490C>G
XR_948291.2:n.1718C>G