Canonical Allele Identifier: CA446338685

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726508G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390816G>T , CM000667.2:g.132390816G>T	GRCh38
NC_000005.9:g.131726508G>T , CM000667.1:g.131726508G>T	GRCh37
NC_000005.8:g.131754407G>T	NCBI36
NG_008982.1:g.26108G>T
NG_008982.2:g.26113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1020G>T	ENSP00000388838.2:p.Leu340=
ENST00000435065.7:c.1251G>T	ENSP00000402760.2:p.Leu417=
ENST00000448810.6:c.*31G>T	ENSP00000401860.2:n.*31G>T
ENST00000685543.1:n.1320G>T
ENST00000686757.1:c.*343G>T	ENSP00000510721.1:n.*343G>T
ENST00000687740.1:n.3864G>T
ENST00000688151.1:n.2489G>T
ENST00000689271.1:c.1026G>T	ENSP00000510797.1:p.Leu342=
ENST00000690900.1:c.*343G>T	ENSP00000510703.1:n.*343G>T
ENST00000692212.1:n.2791G>T
ENST00000692355.1:c.432G>T
ENST00000692413.1:c.1161G>T	ENSP00000509374.1:p.Leu387=
ENST00000692825.1:c.1247G>T	ENSP00000509447.1:n.1247G>T
ENST00000693308.1:c.1227G>T	ENSP00000509770.1:p.Leu409=
ENST00000693763.1:n.2339G>T
ENST00000245407.8:c.1179G>T MANE Select	ENSP00000245407.3:p.Leu393=
ENST00000245407.7:c.1179G>T	ENSP00000245407.3:p.Leu393=
ENST00000435065.6:c.1251G>T	ENSP00000402760.2:p.Leu417=
ENST00000447841.5:c.112-1617G>T
ENST00000448810.5:c.441G>T
ENST00000461013.5:n.8601G>T
ENST00000475308.1:n.1857G>T
ENST00000479605.5:n.282G>T
NM_001308122.1:c.1251G>T	NP_001295051.1:p.Leu417=
NM_003060.3:c.1179G>T	NP_003051.1:p.Leu393=
XM_011543590.1:c.561G>T	XP_011541892.1:p.Leu187=
XR_427718.1:n.1539G>T
XR_948290.1:n.1394-1617G>T
XR_948291.1:n.1533G>T
XM_011543590.2:c.561G>T	XP_011541892.1:p.Leu187=
XM_017009778.2:c.651G>T	XP_016865267.1:p.Leu217=
XR_001742215.1:n.1434G>T
XR_001742216.1:n.1453G>T
XR_427718.2:n.1539G>T
XR_948290.2:n.1394-1617G>T
XR_948291.2:n.1533G>T
NM_003060.4:c.1179G>T MANE Select	NP_003051.1:p.Leu393=
NM_001308122.2:c.1251G>T	NP_001295051.1:p.Leu417=