Canonical Allele Identifier: CA360807580

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726456G>A (hg19) ; chr5:g.132390764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390764G>A , CM000667.2:g.132390764G>A	GRCh38
NC_000005.9:g.131726456G>A , CM000667.1:g.131726456G>A	GRCh37
NC_000005.8:g.131754355G>A	NCBI36
NG_008982.1:g.26056G>A
NG_008982.2:g.26061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.968G>A	ENSP00000388838.2:p.Cys323Tyr
ENST00000435065.7:c.1199G>A	ENSP00000402760.2:p.Cys400Tyr
ENST00000448810.6:c.1053-12G>A	ENSP00000401860.2:n.1053-12G>A
ENST00000685543.1:n.1268G>A
ENST00000686757.1:c.*291G>A	ENSP00000510721.1:n.*291G>A
ENST00000687740.1:n.3812G>A
ENST00000688151.1:n.2437G>A
ENST00000689271.1:c.974G>A	ENSP00000510797.1:p.Cys325Tyr
ENST00000690900.1:c.*291G>A	ENSP00000510703.1:n.*291G>A
ENST00000692212.1:n.2739G>A
ENST00000692355.1:c.380G>A
ENST00000692413.1:c.1109G>A	ENSP00000509374.1:p.Cys370Tyr
ENST00000692825.1:c.1195G>A	ENSP00000509447.1:n.1195G>A
ENST00000693308.1:c.1175G>A	ENSP00000509770.1:p.Cys392Tyr
ENST00000693763.1:n.2287G>A
ENST00000245407.8:c.1127G>A MANE Select	ENSP00000245407.3:p.Cys376Tyr
ENST00000245407.7:c.1127G>A	ENSP00000245407.3:p.Cys376Tyr
ENST00000435065.6:c.1199G>A	ENSP00000402760.2:p.Cys400Tyr
ENST00000447841.5:c.112-1669G>A
ENST00000448810.5:c.401-12G>A
ENST00000461013.5:n.8549G>A
ENST00000475308.1:n.1805G>A
ENST00000479605.5:n.230G>A
NM_001308122.1:c.1199G>A	NP_001295051.1:p.Cys400Tyr
NM_003060.3:c.1127G>A	NP_003051.1:p.Cys376Tyr
XM_011543590.1:c.509G>A	XP_011541892.1:p.Cys170Tyr
XR_427718.1:n.1487G>A
XR_948290.1:n.1394-1669G>A
XR_948291.1:n.1481G>A
XM_011543590.2:c.509G>A	XP_011541892.1:p.Cys170Tyr
XM_017009778.2:c.599G>A	XP_016865267.1:p.Cys200Tyr
XR_001742215.1:n.1394-12G>A
XR_001742216.1:n.1413-12G>A
XR_427718.2:n.1487G>A
XR_948290.2:n.1394-1669G>A
XR_948291.2:n.1481G>A
NM_003060.4:c.1127G>A MANE Select	NP_003051.1:p.Cys376Tyr
NM_001308122.2:c.1199G>A	NP_001295051.1:p.Cys400Tyr