Canonical Allele Identifier: CA360805071

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385394C>T , CM000667.2:g.132385394C>T	GRCh38
NC_000005.9:g.131721086C>T , CM000667.1:g.131721086C>T	GRCh37
NC_000005.8:g.131748985C>T	NCBI36
NG_008982.1:g.20686C>T
NG_008982.2:g.20691C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.719C>T MANE Select	NP_003051.1:p.Ala240Val
ENST00000245407.8:c.719C>T MANE Select	ENSP00000245407.3:p.Ala240Val
NM_001308122.1:c.791C>T	NP_001295051.1:p.Ala264Val
NM_001308122.2:c.791C>T	NP_001295051.1:p.Ala264Val
NM_003060.3:c.719C>T	NP_003051.1:p.Ala240Val
ENST00000245407.7:c.719C>T	ENSP00000245407.3:p.Ala240Val
ENST00000415928.5:c.488C>T	ENSP00000388838.1:p.Ala163Val
ENST00000415928.6:c.665+1080C>T	ENSP00000388838.2:n.665+1080C>T
ENST00000435065.6:c.791C>T	ENSP00000402760.2:p.Ala264Val
ENST00000435065.7:c.791C>T	ENSP00000402760.2:p.Ala264Val
ENST00000437841.6:c.*34C>T	ENSP00000400553.1:n.*34C>T
ENST00000448810.5:c.67C>T
ENST00000448810.6:c.719C>T	ENSP00000401860.2:p.Ala240Val
ENST00000461013.5:n.8141C>T
ENST00000686757.1:c.738C>T	ENSP00000510721.1:p.Cys246=
ENST00000687740.1:n.1879C>T
ENST00000688151.1:n.1911C>T
ENST00000689271.1:c.671+1074C>T	ENSP00000510797.1:n.671+1074C>T
ENST00000690900.1:c.690C>T	ENSP00000510703.1:p.Cys230=
ENST00000692212.1:n.545C>T
ENST00000692355.1:c.204+1093C>T
ENST00000692413.1:c.738C>T	ENSP00000509374.1:p.Cys246=
ENST00000692825.1:c.787C>T	ENSP00000509447.1:n.787C>T
ENST00000693308.1:c.732C>T	ENSP00000509770.1:p.Cys244=
ENST00000693763.1:n.1879C>T
XM_011543590.1:c.101C>T	XP_011541892.1:p.Ala34Val
XM_011543590.2:c.101C>T	XP_011541892.1:p.Ala34Val
XM_017009778.2:c.191C>T	XP_016865267.1:p.Ala64Val
XR_001742215.1:n.1060C>T
XR_001742216.1:n.1079C>T
XR_427718.1:n.1079C>T
XR_427718.2:n.1079C>T
XR_948290.1:n.1060C>T
XR_948290.2:n.1060C>T
XR_948291.1:n.1073C>T
XR_948291.2:n.1073C>T