Canonical Allele Identifier: CA360807693

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1752672155
• MyVariant Identifiers: chr5:g.131726510T>G (hg19) ; chr5:g.132390818T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390818T>G , CM000667.2:g.132390818T>G	GRCh38
NC_000005.9:g.131726510T>G , CM000667.1:g.131726510T>G	GRCh37
NC_000005.8:g.131754409T>G	NCBI36
NG_008982.1:g.26110T>G
NG_008982.2:g.26115T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1022T>G	ENSP00000388838.2:p.Leu341Arg
ENST00000435065.7:c.1253T>G	ENSP00000402760.2:p.Leu418Arg
ENST00000448810.6:c.*33T>G	ENSP00000401860.2:n.*33T>G
ENST00000685543.1:n.1322T>G
ENST00000686757.1:c.*345T>G	ENSP00000510721.1:n.*345T>G
ENST00000687740.1:n.3866T>G
ENST00000688151.1:n.2491T>G
ENST00000689271.1:c.1028T>G	ENSP00000510797.1:p.Leu343Arg
ENST00000690900.1:c.*345T>G	ENSP00000510703.1:n.*345T>G
ENST00000692212.1:n.2793T>G
ENST00000692355.1:c.434T>G
ENST00000692413.1:c.1163T>G	ENSP00000509374.1:p.Leu388Arg
ENST00000692825.1:c.1249T>G	ENSP00000509447.1:n.1249T>G
ENST00000693308.1:c.1229T>G	ENSP00000509770.1:p.Leu410Arg
ENST00000693763.1:n.2341T>G
ENST00000245407.8:c.1181T>G MANE Select	ENSP00000245407.3:p.Leu394Arg
ENST00000245407.7:c.1181T>G	ENSP00000245407.3:p.Leu394Arg
ENST00000435065.6:c.1253T>G	ENSP00000402760.2:p.Leu418Arg
ENST00000447841.5:c.112-1615T>G
ENST00000448810.5:c.443T>G
ENST00000461013.5:n.8603T>G
ENST00000475308.1:n.1859T>G
ENST00000479605.5:n.284T>G
NM_001308122.1:c.1253T>G	NP_001295051.1:p.Leu418Arg
NM_003060.3:c.1181T>G	NP_003051.1:p.Leu394Arg
XM_011543590.1:c.563T>G	XP_011541892.1:p.Leu188Arg
XR_427718.1:n.1541T>G
XR_948290.1:n.1394-1615T>G
XR_948291.1:n.1535T>G
XM_011543590.2:c.563T>G	XP_011541892.1:p.Leu188Arg
XM_017009778.2:c.653T>G	XP_016865267.1:p.Leu218Arg
XR_001742215.1:n.1436T>G
XR_001742216.1:n.1455T>G
XR_427718.2:n.1541T>G
XR_948290.2:n.1394-1615T>G
XR_948291.2:n.1535T>G
NM_003060.4:c.1181T>G MANE Select	NP_003051.1:p.Leu394Arg
NM_001308122.2:c.1253T>G	NP_001295051.1:p.Leu418Arg