Canonical Allele Identifier: CA360807527

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726432T>G (hg19) ; chr5:g.132390740T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390740T>G , CM000667.2:g.132390740T>G	GRCh38
NC_000005.9:g.131726432T>G , CM000667.1:g.131726432T>G	GRCh37
NC_000005.8:g.131754331T>G	NCBI36
NG_008982.1:g.26032T>G
NG_008982.2:g.26037T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.944T>G	ENSP00000388838.2:p.Leu315Trp
ENST00000435065.7:c.1175T>G	ENSP00000402760.2:p.Leu392Trp
ENST00000448810.6:c.1053-36T>G	ENSP00000401860.2:n.1053-36T>G
ENST00000685543.1:n.1244T>G
ENST00000686757.1:c.*267T>G	ENSP00000510721.1:n.*267T>G
ENST00000687740.1:n.3788T>G
ENST00000688151.1:n.2413T>G
ENST00000689271.1:c.950T>G	ENSP00000510797.1:p.Leu317Trp
ENST00000690900.1:c.*267T>G	ENSP00000510703.1:n.*267T>G
ENST00000692212.1:n.2715T>G
ENST00000692355.1:c.356T>G
ENST00000692413.1:c.1085T>G	ENSP00000509374.1:p.Leu362Trp
ENST00000692825.1:c.1171T>G	ENSP00000509447.1:n.1171T>G
ENST00000693308.1:c.1151T>G	ENSP00000509770.1:p.Leu384Trp
ENST00000693763.1:n.2263T>G
ENST00000245407.8:c.1103T>G MANE Select	ENSP00000245407.3:p.Leu368Trp
ENST00000245407.7:c.1103T>G	ENSP00000245407.3:p.Leu368Trp
ENST00000435065.6:c.1175T>G	ENSP00000402760.2:p.Leu392Trp
ENST00000447841.5:c.112-1693T>G
ENST00000448810.5:c.401-36T>G
ENST00000461013.5:n.8525T>G
ENST00000475308.1:n.1781T>G
ENST00000479605.5:n.206T>G
NM_001308122.1:c.1175T>G	NP_001295051.1:p.Leu392Trp
NM_003060.3:c.1103T>G	NP_003051.1:p.Leu368Trp
XM_011543590.1:c.485T>G	XP_011541892.1:p.Leu162Trp
XR_427718.1:n.1463T>G
XR_948290.1:n.1394-1693T>G
XR_948291.1:n.1457T>G
XM_011543590.2:c.485T>G	XP_011541892.1:p.Leu162Trp
XM_017009778.2:c.575T>G	XP_016865267.1:p.Leu192Trp
XR_001742215.1:n.1394-36T>G
XR_001742216.1:n.1413-36T>G
XR_427718.2:n.1463T>G
XR_948290.2:n.1394-1693T>G
XR_948291.2:n.1457T>G
NM_003060.4:c.1103T>G MANE Select	NP_003051.1:p.Leu368Trp
NM_001308122.2:c.1175T>G	NP_001295051.1:p.Leu392Trp