Canonical Allele Identifier: CA446330127

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721054A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385362A>T , CM000667.2:g.132385362A>T	GRCh38
NC_000005.9:g.131721054A>T , CM000667.1:g.131721054A>T	GRCh37
NC_000005.8:g.131748953A>T	NCBI36
NG_008982.1:g.20654A>T
NG_008982.2:g.20659A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1048A>T	ENSP00000388838.2:n.665+1048A>T
ENST00000435065.7:c.759A>T	ENSP00000402760.2:p.Ile253=
ENST00000448810.6:c.687A>T	ENSP00000401860.2:p.Ile229=
ENST00000686757.1:c.706A>T	ENSP00000510721.1:p.Ile236Phe
ENST00000687740.1:n.1847A>T
ENST00000688151.1:n.1879A>T
ENST00000689271.1:c.671+1042A>T	ENSP00000510797.1:n.671+1042A>T
ENST00000690900.1:c.672-14A>T	ENSP00000510703.1:n.672-14A>T
ENST00000692212.1:n.513A>T
ENST00000692355.1:c.204+1061A>T
ENST00000692413.1:c.706A>T	ENSP00000509374.1:p.Ile236Phe
ENST00000692825.1:c.755A>T	ENSP00000509447.1:n.755A>T
ENST00000693308.1:c.700A>T	ENSP00000509770.1:p.Ile234Phe
ENST00000693763.1:n.1847A>T
ENST00000245407.8:c.687A>T MANE Select	ENSP00000245407.3:p.Ile229=
ENST00000245407.7:c.687A>T	ENSP00000245407.3:p.Ile229=
ENST00000415928.5:c.456A>T	ENSP00000388838.1:p.Ile152=
ENST00000435065.6:c.759A>T	ENSP00000402760.2:p.Ile253=
ENST00000437841.6:c.*2A>T	ENSP00000400553.1:n.*2A>T
ENST00000448810.5:c.35A>T
ENST00000461013.5:n.8109A>T
NM_001308122.1:c.759A>T	NP_001295051.1:p.Ile253=
NM_003060.3:c.687A>T	NP_003051.1:p.Ile229=
XM_011543590.1:c.69A>T	XP_011541892.1:p.Ile23=
XR_427718.1:n.1047A>T
XR_948290.1:n.1028A>T
XR_948291.1:n.1041A>T
XM_011543590.2:c.69A>T	XP_011541892.1:p.Ile23=
XM_017009778.2:c.159A>T	XP_016865267.1:p.Ile53=
XR_001742215.1:n.1028A>T
XR_001742216.1:n.1047A>T
XR_427718.2:n.1047A>T
XR_948290.2:n.1028A>T
XR_948291.2:n.1041A>T
NM_003060.4:c.687A>T MANE Select	NP_003051.1:p.Ile229=
NM_001308122.2:c.759A>T	NP_001295051.1:p.Ile253=