Canonical Allele Identifier: CA360805122

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721110T>G (hg19) ; chr5:g.132385418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385418T>G , CM000667.2:g.132385418T>G	GRCh38
NC_000005.9:g.131721110T>G , CM000667.1:g.131721110T>G	GRCh37
NC_000005.8:g.131749009T>G	NCBI36
NG_008982.1:g.20710T>G
NG_008982.2:g.20715T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1104T>G	ENSP00000388838.2:n.665+1104T>G
ENST00000435065.7:c.815T>G	ENSP00000402760.2:p.Leu272Arg
ENST00000448810.6:c.743T>G	ENSP00000401860.2:p.Leu248Arg
ENST00000686757.1:c.762T>G	ENSP00000510721.1:p.Thr254=
ENST00000687740.1:n.1903T>G
ENST00000688151.1:n.1935T>G
ENST00000689271.1:c.671+1098T>G	ENSP00000510797.1:n.671+1098T>G
ENST00000690900.1:c.714T>G	ENSP00000510703.1:p.Thr238=
ENST00000692212.1:n.569T>G
ENST00000692355.1:c.204+1117T>G
ENST00000692413.1:c.762T>G	ENSP00000509374.1:p.Thr254=
ENST00000692825.1:c.811T>G	ENSP00000509447.1:n.811T>G
ENST00000693308.1:c.756T>G	ENSP00000509770.1:p.Thr252=
ENST00000693763.1:n.1903T>G
ENST00000245407.8:c.743T>G MANE Select	ENSP00000245407.3:p.Leu248Arg
ENST00000245407.7:c.743T>G	ENSP00000245407.3:p.Leu248Arg
ENST00000415928.5:c.512T>G	ENSP00000388838.1:p.Leu171Arg
ENST00000435065.6:c.815T>G	ENSP00000402760.2:p.Leu272Arg
ENST00000437841.6:c.*58T>G	ENSP00000400553.1:n.*58T>G
ENST00000448810.5:c.91T>G
ENST00000461013.5:n.8165T>G
NM_001308122.1:c.815T>G	NP_001295051.1:p.Leu272Arg
NM_003060.3:c.743T>G	NP_003051.1:p.Leu248Arg
XM_011543590.1:c.125T>G	XP_011541892.1:p.Leu42Arg
XR_427718.1:n.1103T>G
XR_948290.1:n.1084T>G
XR_948291.1:n.1097T>G
XM_011543590.2:c.125T>G	XP_011541892.1:p.Leu42Arg
XM_017009778.2:c.215T>G	XP_016865267.1:p.Leu72Arg
XR_001742215.1:n.1084T>G
XR_001742216.1:n.1103T>G
XR_427718.2:n.1103T>G
XR_948290.2:n.1084T>G
XR_948291.2:n.1097T>G
NM_003060.4:c.743T>G MANE Select	NP_003051.1:p.Leu248Arg
NM_001308122.2:c.815T>G	NP_001295051.1:p.Leu272Arg