Canonical Allele Identifier: CA360810196

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394207A>G , CM000667.2:g.132394207A>G	GRCh38
NC_000005.9:g.131729899A>G , CM000667.1:g.131729899A>G	GRCh37
NC_000005.8:g.131757798A>G	NCBI36
NG_008982.1:g.29499A>G
NG_008982.2:g.29504A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1609A>G MANE Select	NP_003051.1:p.Ser537Gly
ENST00000245407.8:c.1609A>G MANE Select	ENSP00000245407.3:p.Ser537Gly
NM_001308122.1:c.1681A>G	NP_001295051.1:p.Ser561Gly
NM_001308122.2:c.1681A>G	NP_001295051.1:p.Ser561Gly
NM_003060.3:c.1609A>G	NP_003051.1:p.Ser537Gly
ENST00000245407.7:c.1609A>G	ENSP00000245407.3:p.Ser537Gly
ENST00000415928.6:c.*18A>G	ENSP00000388838.2:n.*18A>G
ENST00000435065.6:c.1681A>G	ENSP00000402760.2:p.Ser561Gly
ENST00000435065.7:c.1681A>G	ENSP00000402760.2:p.Ser561Gly
ENST00000447841.5:c.453A>G
ENST00000448810.6:c.*461A>G	ENSP00000401860.2:n.*461A>G
ENST00000461013.5:n.9031A>G
ENST00000475308.1:n.2287A>G
ENST00000685543.1:n.1750A>G
ENST00000686757.1:c.*773A>G	ENSP00000510721.1:n.*773A>G
ENST00000686868.1:n.601A>G
ENST00000687740.1:n.4294A>G
ENST00000688151.1:n.2919A>G
ENST00000689271.1:c.1456A>G	ENSP00000510797.1:p.Ser486Gly
ENST00000690900.1:c.*773A>G	ENSP00000510703.1:n.*773A>G
ENST00000692212.1:n.4749A>G
ENST00000692355.1:c.862A>G
ENST00000692413.1:c.1591A>G	ENSP00000509374.1:p.Ser531Gly
ENST00000692825.1:c.1677A>G	ENSP00000509447.1:n.1677A>G
ENST00000693308.1:c.1657A>G	ENSP00000509770.1:p.Ser553Gly
ENST00000693763.1:n.2769A>G
XM_011543590.1:c.991A>G	XP_011541892.1:p.Ser331Gly
XM_011543590.2:c.991A>G	XP_011541892.1:p.Ser331Gly
XM_017009778.2:c.1081A>G	XP_016865267.1:p.Ser361Gly
XR_001742215.1:n.1864A>G
XR_001742216.1:n.1883A>G
XR_427718.2:n.1969A>G
XR_948290.1:n.1735A>G
XR_948290.2:n.1735A>G
XR_948291.2:n.1963A>G