Canonical Allele Identifier: CA446332747

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722744C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387052C>G , CM000667.2:g.132387052C>G	GRCh38
NC_000005.9:g.131722744C>G , CM000667.1:g.131722744C>G	GRCh37
NC_000005.8:g.131750643C>G	NCBI36
NG_008982.1:g.22344C>G
NG_008982.2:g.22349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.693C>G	ENSP00000388838.2:p.Leu231=
ENST00000435065.7:c.924C>G	ENSP00000402760.2:p.Leu308=
ENST00000448810.6:c.852C>G	ENSP00000401860.2:p.Leu284=
ENST00000686757.1:c.*16C>G	ENSP00000510721.1:n.*16C>G
ENST00000687740.1:n.3537C>G
ENST00000688151.1:n.2162C>G
ENST00000689271.1:c.699C>G	ENSP00000510797.1:p.Leu233=
ENST00000690900.1:c.*16C>G	ENSP00000510703.1:n.*16C>G
ENST00000692212.1:n.796C>G
ENST00000692355.1:c.205-1869C>G
ENST00000692413.1:c.844-10C>G	ENSP00000509374.1:n.844-10C>G
ENST00000692825.1:c.920C>G	ENSP00000509447.1:n.920C>G
ENST00000693308.1:c.900C>G	ENSP00000509770.1:p.Leu300=
ENST00000693763.1:n.2012C>G
ENST00000245407.8:c.852C>G MANE Select	ENSP00000245407.3:p.Leu284=
ENST00000245407.7:c.852C>G	ENSP00000245407.3:p.Leu284=
ENST00000415928.5:c.621C>G	ENSP00000388838.1:p.Leu207=
ENST00000435065.6:c.924C>G	ENSP00000402760.2:p.Leu308=
ENST00000437841.6:c.*167C>G	ENSP00000400553.1:n.*167C>G
ENST00000448810.5:c.200C>G
ENST00000461013.5:n.8274C>G
NM_001308122.1:c.924C>G	NP_001295051.1:p.Leu308=
NM_003060.3:c.852C>G	NP_003051.1:p.Leu284=
XM_011543590.1:c.234C>G	XP_011541892.1:p.Leu78=
XR_427718.1:n.1212C>G
XR_948290.1:n.1193C>G
XR_948291.1:n.1206C>G
XM_011543590.2:c.234C>G	XP_011541892.1:p.Leu78=
XM_017009778.2:c.324C>G	XP_016865267.1:p.Leu108=
XR_001742215.1:n.1193C>G
XR_001742216.1:n.1212C>G
XR_427718.2:n.1212C>G
XR_948290.2:n.1193C>G
XR_948291.2:n.1206C>G
NM_003060.4:c.852C>G MANE Select	NP_003051.1:p.Leu284=
NM_001308122.2:c.924C>G	NP_001295051.1:p.Leu308=