Canonical Allele Identifier: CA360807578

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726455T>G (hg19) ; chr5:g.132390763T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390763T>G , CM000667.2:g.132390763T>G	GRCh38
NC_000005.9:g.131726455T>G , CM000667.1:g.131726455T>G	GRCh37
NC_000005.8:g.131754354T>G	NCBI36
NG_008982.1:g.26055T>G
NG_008982.2:g.26060T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.967T>G	ENSP00000388838.2:p.Cys323Gly
ENST00000435065.7:c.1198T>G	ENSP00000402760.2:p.Cys400Gly
ENST00000448810.6:c.1053-13T>G	ENSP00000401860.2:n.1053-13T>G
ENST00000685543.1:n.1267T>G
ENST00000686757.1:c.*290T>G	ENSP00000510721.1:n.*290T>G
ENST00000687740.1:n.3811T>G
ENST00000688151.1:n.2436T>G
ENST00000689271.1:c.973T>G	ENSP00000510797.1:p.Cys325Gly
ENST00000690900.1:c.*290T>G	ENSP00000510703.1:n.*290T>G
ENST00000692212.1:n.2738T>G
ENST00000692355.1:c.379T>G
ENST00000692413.1:c.1108T>G	ENSP00000509374.1:p.Cys370Gly
ENST00000692825.1:c.1194T>G	ENSP00000509447.1:n.1194T>G
ENST00000693308.1:c.1174T>G	ENSP00000509770.1:p.Cys392Gly
ENST00000693763.1:n.2286T>G
ENST00000245407.8:c.1126T>G MANE Select	ENSP00000245407.3:p.Cys376Gly
ENST00000245407.7:c.1126T>G	ENSP00000245407.3:p.Cys376Gly
ENST00000435065.6:c.1198T>G	ENSP00000402760.2:p.Cys400Gly
ENST00000447841.5:c.112-1670T>G
ENST00000448810.5:c.401-13T>G
ENST00000461013.5:n.8548T>G
ENST00000475308.1:n.1804T>G
ENST00000479605.5:n.229T>G
NM_001308122.1:c.1198T>G	NP_001295051.1:p.Cys400Gly
NM_003060.3:c.1126T>G	NP_003051.1:p.Cys376Gly
XM_011543590.1:c.508T>G	XP_011541892.1:p.Cys170Gly
XR_427718.1:n.1486T>G
XR_948290.1:n.1394-1670T>G
XR_948291.1:n.1480T>G
XM_011543590.2:c.508T>G	XP_011541892.1:p.Cys170Gly
XM_017009778.2:c.598T>G	XP_016865267.1:p.Cys200Gly
XR_001742215.1:n.1394-13T>G
XR_001742216.1:n.1413-13T>G
XR_427718.2:n.1486T>G
XR_948290.2:n.1394-1670T>G
XR_948291.2:n.1480T>G
NM_003060.4:c.1126T>G MANE Select	NP_003051.1:p.Cys376Gly
NM_001308122.2:c.1198T>G	NP_001295051.1:p.Cys400Gly