Canonical Allele Identifier: CA446330456

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1137891
• ClinVar RCV Id: RCV001474023
• dbSNP Id: rs2126784023
• MyVariant Identifiers: chr5:g.131721172C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385480C>T , CM000667.2:g.132385480C>T	GRCh38
NC_000005.9:g.131721172C>T , CM000667.1:g.131721172C>T	GRCh37
NC_000005.8:g.131749071C>T	NCBI36
NG_008982.1:g.20772C>T
NG_008982.2:g.20777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1166C>T	ENSP00000388838.2:n.665+1166C>T
ENST00000435065.7:c.877C>T	ENSP00000402760.2:p.Leu293=
ENST00000448810.6:c.805C>T	ENSP00000401860.2:p.Leu269=
ENST00000686757.1:c.824C>T	ENSP00000510721.1:p.Ala275Val
ENST00000687740.1:n.1965C>T
ENST00000688151.1:n.1997C>T
ENST00000689271.1:c.671+1160C>T	ENSP00000510797.1:n.671+1160C>T
ENST00000690900.1:c.776C>T	ENSP00000510703.1:p.Ala259Val
ENST00000692212.1:n.631C>T
ENST00000692355.1:c.204+1179C>T
ENST00000692413.1:c.824C>T	ENSP00000509374.1:p.Ala275Val
ENST00000692825.1:c.873C>T	ENSP00000509447.1:n.873C>T
ENST00000693308.1:c.818C>T	ENSP00000509770.1:p.Ala273Val
ENST00000693763.1:n.1965C>T
ENST00000245407.8:c.805C>T MANE Select	ENSP00000245407.3:p.Leu269=
ENST00000245407.7:c.805C>T	ENSP00000245407.3:p.Leu269=
ENST00000415928.5:c.574C>T	ENSP00000388838.1:p.Leu192=
ENST00000435065.6:c.877C>T	ENSP00000402760.2:p.Leu293=
ENST00000437841.6:c.*120C>T	ENSP00000400553.1:n.*120C>T
ENST00000448810.5:c.153C>T
ENST00000461013.5:n.8227C>T
NM_001308122.1:c.877C>T	NP_001295051.1:p.Leu293=
NM_003060.3:c.805C>T	NP_003051.1:p.Leu269=
XM_011543590.1:c.187C>T	XP_011541892.1:p.Leu63=
XR_427718.1:n.1165C>T
XR_948290.1:n.1146C>T
XR_948291.1:n.1159C>T
XM_011543590.2:c.187C>T	XP_011541892.1:p.Leu63=
XM_017009778.2:c.277C>T	XP_016865267.1:p.Leu93=
XR_001742215.1:n.1146C>T
XR_001742216.1:n.1165C>T
XR_427718.2:n.1165C>T
XR_948290.2:n.1146C>T
XR_948291.2:n.1159C>T
NM_003060.4:c.805C>T MANE Select	NP_003051.1:p.Leu269=
NM_001308122.2:c.877C>T	NP_001295051.1:p.Leu293=