Canonical Allele Identifier: CA360805566

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722751C>G (hg19) ; chr5:g.132387059C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387059C>G , CM000667.2:g.132387059C>G	GRCh38
NC_000005.9:g.131722751C>G , CM000667.1:g.131722751C>G	GRCh37
NC_000005.8:g.131750650C>G	NCBI36
NG_008982.1:g.22351C>G
NG_008982.2:g.22356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.700C>G	ENSP00000388838.2:p.Gln234Glu
ENST00000435065.7:c.931C>G	ENSP00000402760.2:p.Gln311Glu
ENST00000448810.6:c.859C>G	ENSP00000401860.2:p.Gln287Glu
ENST00000686757.1:c.*23C>G	ENSP00000510721.1:n.*23C>G
ENST00000687740.1:n.3544C>G
ENST00000688151.1:n.2169C>G
ENST00000689271.1:c.706C>G	ENSP00000510797.1:p.Gln236Glu
ENST00000690900.1:c.*23C>G	ENSP00000510703.1:n.*23C>G
ENST00000692212.1:n.803C>G
ENST00000692355.1:c.205-1862C>G
ENST00000692413.1:c.844-3C>G	ENSP00000509374.1:n.844-3C>G
ENST00000692825.1:c.927C>G	ENSP00000509447.1:n.927C>G
ENST00000693308.1:c.907C>G	ENSP00000509770.1:p.Gln303Glu
ENST00000693763.1:n.2019C>G
ENST00000245407.8:c.859C>G MANE Select	ENSP00000245407.3:p.Gln287Glu
ENST00000245407.7:c.859C>G	ENSP00000245407.3:p.Gln287Glu
ENST00000415928.5:c.628C>G	ENSP00000388838.1:p.Gln210Glu
ENST00000435065.6:c.931C>G	ENSP00000402760.2:p.Gln311Glu
ENST00000437841.6:c.*174C>G	ENSP00000400553.1:n.*174C>G
ENST00000448810.5:c.207C>G
ENST00000461013.5:n.8281C>G
NM_001308122.1:c.931C>G	NP_001295051.1:p.Gln311Glu
NM_003060.3:c.859C>G	NP_003051.1:p.Gln287Glu
XM_011543590.1:c.241C>G	XP_011541892.1:p.Gln81Glu
XR_427718.1:n.1219C>G
XR_948290.1:n.1200C>G
XR_948291.1:n.1213C>G
XM_011543590.2:c.241C>G	XP_011541892.1:p.Gln81Glu
XM_017009778.2:c.331C>G	XP_016865267.1:p.Gln111Glu
XR_001742215.1:n.1200C>G
XR_001742216.1:n.1219C>G
XR_427718.2:n.1219C>G
XR_948290.2:n.1200C>G
XR_948291.2:n.1213C>G
NM_003060.4:c.859C>G MANE Select	NP_003051.1:p.Gln287Glu
NM_001308122.2:c.931C>G	NP_001295051.1:p.Gln311Glu