Canonical Allele Identifier: CA360805265

Gene: SLC22A5

Linked Data

• dbSNP Id: rs2126784059
• MyVariant Identifiers: chr5:g.131721184C>T (hg19) ; chr5:g.132385492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385492C>T , CM000667.2:g.132385492C>T	GRCh38
NC_000005.9:g.131721184C>T , CM000667.1:g.131721184C>T	GRCh37
NC_000005.8:g.131749083C>T	NCBI36
NG_008982.1:g.20784C>T
NG_008982.2:g.20789C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1178C>T	ENSP00000388838.2:n.665+1178C>T
ENST00000435065.7:c.889C>T	ENSP00000402760.2:p.Leu297Phe
ENST00000448810.6:c.817C>T	ENSP00000401860.2:p.Leu273Phe
ENST00000686757.1:c.836C>T	ENSP00000510721.1:p.Thr279Ile
ENST00000687740.1:n.1977C>T
ENST00000688151.1:n.2009C>T
ENST00000689271.1:c.671+1172C>T	ENSP00000510797.1:n.671+1172C>T
ENST00000690900.1:c.788C>T	ENSP00000510703.1:p.Thr263Ile
ENST00000692212.1:n.643C>T
ENST00000692355.1:c.204+1191C>T
ENST00000692413.1:c.836C>T	ENSP00000509374.1:p.Thr279Ile
ENST00000692825.1:c.885C>T	ENSP00000509447.1:n.885C>T
ENST00000693308.1:c.830C>T	ENSP00000509770.1:p.Thr277Ile
ENST00000693763.1:n.1977C>T
ENST00000245407.8:c.817C>T MANE Select	ENSP00000245407.3:p.Leu273Phe
ENST00000245407.7:c.817C>T	ENSP00000245407.3:p.Leu273Phe
ENST00000415928.5:c.586C>T	ENSP00000388838.1:p.Leu196Phe
ENST00000435065.6:c.889C>T	ENSP00000402760.2:p.Leu297Phe
ENST00000437841.6:c.*132C>T	ENSP00000400553.1:n.*132C>T
ENST00000448810.5:c.165C>T
ENST00000461013.5:n.8239C>T
NM_001308122.1:c.889C>T	NP_001295051.1:p.Leu297Phe
NM_003060.3:c.817C>T	NP_003051.1:p.Leu273Phe
XM_011543590.1:c.199C>T	XP_011541892.1:p.Leu67Phe
XR_427718.1:n.1177C>T
XR_948290.1:n.1158C>T
XR_948291.1:n.1171C>T
XM_011543590.2:c.199C>T	XP_011541892.1:p.Leu67Phe
XM_017009778.2:c.289C>T	XP_016865267.1:p.Leu97Phe
XR_001742215.1:n.1158C>T
XR_001742216.1:n.1177C>T
XR_427718.2:n.1177C>T
XR_948290.2:n.1158C>T
XR_948291.2:n.1171C>T
NM_003060.4:c.817C>T MANE Select	NP_003051.1:p.Leu273Phe
NM_001308122.2:c.889C>T	NP_001295051.1:p.Leu297Phe