Canonical Allele Identifier: CA360802573

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2158248
• ClinVar RCV Id: RCV003069668
• dbSNP Id: rs1476076948
• gnomAD v2: 5-131705860-A-G
• gnomAD v3: 5-132370168-A-G
• gnomAD v4: 5-132370168-A-G
• MyVariant Identifiers: chr5:g.131705860A>G (hg19) ; chr5:g.132370168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370168A>G , CM000667.2:g.132370168A>G	GRCh38
NC_000005.9:g.131705860A>G , CM000667.1:g.131705860A>G	GRCh37
NC_000005.8:g.131733759A>G	NCBI36
NG_008982.1:g.5460A>G
NG_008982.2:g.5465A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.196A>G	ENSP00000388838.2:p.Thr66Ala
ENST00000435065.7:c.196A>G	ENSP00000402760.2:p.Thr66Ala
ENST00000448810.6:c.196A>G	ENSP00000401860.2:p.Thr66Ala
ENST00000686757.1:c.196A>G	ENSP00000510721.1:p.Thr66Ala
ENST00000687740.1:n.330A>G
ENST00000689271.1:c.196A>G	ENSP00000510797.1:p.Thr66Ala
ENST00000690900.1:c.196A>G	ENSP00000510703.1:p.Thr66Ala
ENST00000692413.1:c.196A>G	ENSP00000509374.1:p.Thr66Ala
ENST00000692825.1:c.196A>G	ENSP00000509447.1:p.Thr66Ala
ENST00000693308.1:c.196A>G	ENSP00000509770.1:p.Thr66Ala
ENST00000693763.1:n.330A>G
ENST00000245407.8:c.196A>G MANE Select	ENSP00000245407.3:p.Thr66Ala
ENST00000245407.7:c.196A>G	ENSP00000245407.3:p.Thr66Ala
ENST00000435065.6:c.196A>G	ENSP00000402760.2:p.Thr66Ala
ENST00000437841.6:c.196A>G	ENSP00000400553.1:p.Thr66Ala
NM_001308122.1:c.196A>G	NP_001295051.1:p.Thr66Ala
NM_003060.3:c.196A>G	NP_003051.1:p.Thr66Ala
XR_427718.1:n.465A>G
XR_948290.1:n.465A>G
XR_948291.1:n.465A>G
XM_011543590.2:c.-436A>G	XP_011541892.1:n.-436A>G
XR_001742215.1:n.465A>G
XR_001742216.1:n.465A>G
XR_427718.2:n.465A>G
XR_948290.2:n.465A>G
XR_948291.2:n.465A>G
NM_003060.4:c.196A>G MANE Select	NP_003051.1:p.Thr66Ala
NM_001308122.2:c.196A>G	NP_001295051.1:p.Thr66Ala