Canonical Allele Identifier: CA446346544

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 706028
• ClinVar RCV Id: RCV000876509
• dbSNP Id: rs1253149319
• gnomAD v2: 5-131729465-A-G
• gnomAD v3: 5-132393773-A-G
• gnomAD v4: 5-132393773-A-G
• MyVariant Identifiers: chr5:g.131729465A>G (hg19) ; chr5:g.132393773A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393773A>G , CM000667.2:g.132393773A>G	GRCh38
NC_000005.9:g.131729465A>G , CM000667.1:g.131729465A>G	GRCh37
NC_000005.8:g.131757364A>G	NCBI36
NG_008982.1:g.29065A>G
NG_008982.2:g.29070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-412A>G	ENSP00000388838.2:n.1292-412A>G
ENST00000435065.7:c.1620A>G	ENSP00000402760.2:p.Pro540=
ENST00000448810.6:c.*400A>G	ENSP00000401860.2:n.*400A>G
ENST00000685543.1:n.1689A>G
ENST00000686757.1:c.*712A>G	ENSP00000510721.1:n.*712A>G
ENST00000686868.1:n.540A>G
ENST00000687740.1:n.4233A>G
ENST00000688151.1:n.2858A>G
ENST00000689271.1:c.1395A>G	ENSP00000510797.1:p.Pro465=
ENST00000690900.1:c.*712A>G	ENSP00000510703.1:n.*712A>G
ENST00000692212.1:n.4688A>G
ENST00000692355.1:c.801A>G
ENST00000692413.1:c.1530A>G	ENSP00000509374.1:p.Pro510=
ENST00000692825.1:c.1616A>G	ENSP00000509447.1:n.1616A>G
ENST00000693308.1:c.1596A>G	ENSP00000509770.1:p.Pro532=
ENST00000693763.1:n.2708A>G
ENST00000245407.8:c.1548A>G MANE Select	ENSP00000245407.3:p.Pro516=
ENST00000245407.7:c.1548A>G	ENSP00000245407.3:p.Pro516=
ENST00000435065.6:c.1620A>G	ENSP00000402760.2:p.Pro540=
ENST00000447841.5:c.392A>G
ENST00000448810.5:c.810A>G
ENST00000461013.5:n.8970A>G
ENST00000475308.1:n.2226A>G
NM_001308122.1:c.1620A>G	NP_001295051.1:p.Pro540=
NM_003060.3:c.1548A>G	NP_003051.1:p.Pro516=
XM_011543590.1:c.930A>G	XP_011541892.1:p.Pro310=
XR_948290.1:n.1674A>G
XM_011543590.2:c.930A>G	XP_011541892.1:p.Pro310=
XM_017009778.2:c.1020A>G	XP_016865267.1:p.Pro340=
XR_001742215.1:n.1803A>G
XR_001742216.1:n.1822A>G
XR_427718.2:n.1908A>G
XR_948290.2:n.1674A>G
XR_948291.2:n.1902A>G
NM_003060.4:c.1548A>G MANE Select	NP_003051.1:p.Pro516=
NM_001308122.2:c.1620A>G	NP_001295051.1:p.Pro540=