Canonical Allele Identifier: CA360809848

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729439T>G (hg19) ; chr5:g.132393747T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393747T>G , CM000667.2:g.132393747T>G	GRCh38
NC_000005.9:g.131729439T>G , CM000667.1:g.131729439T>G	GRCh37
NC_000005.8:g.131757338T>G	NCBI36
NG_008982.1:g.29039T>G
NG_008982.2:g.29044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-438T>G	ENSP00000388838.2:n.1292-438T>G
ENST00000435065.7:c.1594T>G	ENSP00000402760.2:p.Phe532Val
ENST00000448810.6:c.*374T>G	ENSP00000401860.2:n.*374T>G
ENST00000685543.1:n.1663T>G
ENST00000686757.1:c.*686T>G	ENSP00000510721.1:n.*686T>G
ENST00000686868.1:n.514T>G
ENST00000687740.1:n.4207T>G
ENST00000688151.1:n.2832T>G
ENST00000689271.1:c.1369T>G	ENSP00000510797.1:p.Phe457Val
ENST00000690900.1:c.*686T>G	ENSP00000510703.1:n.*686T>G
ENST00000692212.1:n.4662T>G
ENST00000692355.1:c.775T>G
ENST00000692413.1:c.1504T>G	ENSP00000509374.1:p.Phe502Val
ENST00000692825.1:c.1590T>G	ENSP00000509447.1:n.1590T>G
ENST00000693308.1:c.1570T>G	ENSP00000509770.1:p.Phe524Val
ENST00000693763.1:n.2682T>G
ENST00000245407.8:c.1522T>G MANE Select	ENSP00000245407.3:p.Phe508Val
ENST00000245407.7:c.1522T>G	ENSP00000245407.3:p.Phe508Val
ENST00000435065.6:c.1594T>G	ENSP00000402760.2:p.Phe532Val
ENST00000447841.5:c.366T>G
ENST00000448810.5:c.784T>G
ENST00000461013.5:n.8944T>G
ENST00000475308.1:n.2200T>G
NM_001308122.1:c.1594T>G	NP_001295051.1:p.Phe532Val
NM_003060.3:c.1522T>G	NP_003051.1:p.Phe508Val
XM_011543590.1:c.904T>G	XP_011541892.1:p.Phe302Val
XR_948290.1:n.1648T>G
XM_011543590.2:c.904T>G	XP_011541892.1:p.Phe302Val
XM_017009778.2:c.994T>G	XP_016865267.1:p.Phe332Val
XR_001742215.1:n.1777T>G
XR_001742216.1:n.1796T>G
XR_427718.2:n.1882T>G
XR_948290.2:n.1648T>G
XR_948291.2:n.1876T>G
NM_003060.4:c.1522T>G MANE Select	NP_003051.1:p.Phe508Val
NM_001308122.2:c.1594T>G	NP_001295051.1:p.Phe532Val