Canonical Allele Identifier: CA360809678

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1488980
• ClinVar RCV Id: RCV001980402
• dbSNP Id: rs1413377442
• gnomAD v2: 5-131729392-A-G
• gnomAD v3: 5-132393700-A-G
• gnomAD v4: 5-132393700-A-G
• MyVariant Identifiers: chr5:g.131729392A>G (hg19) ; chr5:g.132393700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393700A>G , CM000667.2:g.132393700A>G	GRCh38
NC_000005.9:g.131729392A>G , CM000667.1:g.131729392A>G	GRCh37
NC_000005.8:g.131757291A>G	NCBI36
NG_008982.1:g.28992A>G
NG_008982.2:g.28997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-485A>G	ENSP00000388838.2:n.1292-485A>G
ENST00000435065.7:c.1547A>G	ENSP00000402760.2:p.Tyr516Cys
ENST00000448810.6:c.*327A>G	ENSP00000401860.2:n.*327A>G
ENST00000685543.1:n.1616A>G
ENST00000686757.1:c.*639A>G	ENSP00000510721.1:n.*639A>G
ENST00000686868.1:n.467A>G
ENST00000687740.1:n.4160A>G
ENST00000688151.1:n.2785A>G
ENST00000689271.1:c.1322A>G	ENSP00000510797.1:p.Tyr441Cys
ENST00000690900.1:c.*639A>G	ENSP00000510703.1:n.*639A>G
ENST00000692212.1:n.4615A>G
ENST00000692355.1:c.728A>G
ENST00000692413.1:c.1457A>G	ENSP00000509374.1:p.Tyr486Cys
ENST00000692825.1:c.1543A>G	ENSP00000509447.1:n.1543A>G
ENST00000693308.1:c.1523A>G	ENSP00000509770.1:p.Tyr508Cys
ENST00000693763.1:n.2635A>G
ENST00000245407.8:c.1475A>G MANE Select	ENSP00000245407.3:p.Tyr492Cys
ENST00000245407.7:c.1475A>G	ENSP00000245407.3:p.Tyr492Cys
ENST00000435065.6:c.1547A>G	ENSP00000402760.2:p.Tyr516Cys
ENST00000447841.5:c.319A>G
ENST00000448810.5:c.737A>G
ENST00000461013.5:n.8897A>G
ENST00000475308.1:n.2153A>G
NM_001308122.1:c.1547A>G	NP_001295051.1:p.Tyr516Cys
NM_003060.3:c.1475A>G	NP_003051.1:p.Tyr492Cys
XM_011543590.1:c.857A>G	XP_011541892.1:p.Tyr286Cys
XR_948290.1:n.1601A>G
XM_011543590.2:c.857A>G	XP_011541892.1:p.Tyr286Cys
XM_017009778.2:c.947A>G	XP_016865267.1:p.Tyr316Cys
XR_001742215.1:n.1730A>G
XR_001742216.1:n.1749A>G
XR_427718.2:n.1835A>G
XR_948290.2:n.1601A>G
XR_948291.2:n.1829A>G
NM_003060.4:c.1475A>G MANE Select	NP_003051.1:p.Tyr492Cys
NM_001308122.2:c.1547A>G	NP_001295051.1:p.Tyr516Cys