Canonical Allele Identifier: CA360807727

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1423237
• ClinVar RCV Id: RCV001928693
• dbSNP Id: rs1249681027
• gnomAD v2: 5-131726527-C-T
• gnomAD v3: 5-132390835-C-T
• gnomAD v4: 5-132390835-C-T
• MyVariant Identifiers: chr5:g.131726527C>T (hg19) ; chr5:g.132390835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390835C>T , CM000667.2:g.132390835C>T	GRCh38
NC_000005.9:g.131726527C>T , CM000667.1:g.131726527C>T	GRCh37
NC_000005.8:g.131754426C>T	NCBI36
NG_008982.1:g.26127C>T
NG_008982.2:g.26132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1039C>T	ENSP00000388838.2:p.Arg347Cys
ENST00000435065.7:c.1270C>T	ENSP00000402760.2:p.Arg424Cys
ENST00000448810.6:c.*50C>T	ENSP00000401860.2:n.*50C>T
ENST00000685543.1:n.1339C>T
ENST00000686757.1:c.*362C>T	ENSP00000510721.1:n.*362C>T
ENST00000687740.1:n.3883C>T
ENST00000688151.1:n.2508C>T
ENST00000689271.1:c.1045C>T	ENSP00000510797.1:p.Arg349Cys
ENST00000690900.1:c.*362C>T	ENSP00000510703.1:n.*362C>T
ENST00000692212.1:n.2810C>T
ENST00000692355.1:c.451C>T
ENST00000692413.1:c.1180C>T	ENSP00000509374.1:p.Arg394Cys
ENST00000692825.1:c.1266C>T	ENSP00000509447.1:n.1266C>T
ENST00000693308.1:c.1246C>T	ENSP00000509770.1:p.Arg416Cys
ENST00000693763.1:n.2358C>T
ENST00000245407.8:c.1198C>T MANE Select	ENSP00000245407.3:p.Arg400Cys
ENST00000245407.7:c.1198C>T	ENSP00000245407.3:p.Arg400Cys
ENST00000435065.6:c.1270C>T	ENSP00000402760.2:p.Arg424Cys
ENST00000447841.5:c.112-1598C>T
ENST00000448810.5:c.460C>T
ENST00000461013.5:n.8620C>T
ENST00000475308.1:n.1876C>T
ENST00000479605.5:n.301C>T
NM_001308122.1:c.1270C>T	NP_001295051.1:p.Arg424Cys
NM_003060.3:c.1198C>T	NP_003051.1:p.Arg400Cys
XM_011543590.1:c.580C>T	XP_011541892.1:p.Arg194Cys
XR_427718.1:n.1558C>T
XR_948290.1:n.1394-1598C>T
XR_948291.1:n.1552C>T
XM_011543590.2:c.580C>T	XP_011541892.1:p.Arg194Cys
XM_017009778.2:c.670C>T	XP_016865267.1:p.Arg224Cys
XR_001742215.1:n.1453C>T
XR_001742216.1:n.1472C>T
XR_427718.2:n.1558C>T
XR_948290.2:n.1394-1598C>T
XR_948291.2:n.1552C>T
NM_003060.4:c.1198C>T MANE Select	NP_003051.1:p.Arg400Cys
NM_001308122.2:c.1270C>T	NP_001295051.1:p.Arg424Cys