Canonical Allele Identifier: CA3404084

Gene: SLC22A5

Linked Data

• dbSNP Id: rs754506497
• ExAC: 5:131726453 A / G
• gnomAD v2: 5-131726453-A-G
• gnomAD v4: 5-132390761-A-G
• MyVariant Identifiers: chr5:g.131726453A>G (hg19) ; chr5:g.132390761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390761A>G , CM000667.2:g.132390761A>G	GRCh38
NC_000005.9:g.131726453A>G , CM000667.1:g.131726453A>G	GRCh37
NC_000005.8:g.131754352A>G	NCBI36
NG_008982.1:g.26053A>G
NG_008982.2:g.26058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.965A>G	ENSP00000388838.2:p.Asn322Ser
ENST00000435065.7:c.1196A>G	ENSP00000402760.2:p.Asn399Ser
ENST00000448810.6:c.1053-15A>G	ENSP00000401860.2:n.1053-15A>G
ENST00000685543.1:n.1265A>G
ENST00000686757.1:c.*288A>G	ENSP00000510721.1:n.*288A>G
ENST00000687740.1:n.3809A>G
ENST00000688151.1:n.2434A>G
ENST00000689271.1:c.971A>G	ENSP00000510797.1:p.Asn324Ser
ENST00000690900.1:c.*288A>G	ENSP00000510703.1:n.*288A>G
ENST00000692212.1:n.2736A>G
ENST00000692355.1:c.377A>G
ENST00000692413.1:c.1106A>G	ENSP00000509374.1:p.Asn369Ser
ENST00000692825.1:c.1192A>G	ENSP00000509447.1:n.1192A>G
ENST00000693308.1:c.1172A>G	ENSP00000509770.1:p.Asn391Ser
ENST00000693763.1:n.2284A>G
ENST00000245407.8:c.1124A>G MANE Select	ENSP00000245407.3:p.Asn375Ser
ENST00000245407.7:c.1124A>G	ENSP00000245407.3:p.Asn375Ser
ENST00000435065.6:c.1196A>G	ENSP00000402760.2:p.Asn399Ser
ENST00000447841.5:c.112-1672A>G
ENST00000448810.5:c.401-15A>G
ENST00000461013.5:n.8546A>G
ENST00000475308.1:n.1802A>G
ENST00000479605.5:n.227A>G
NM_001308122.1:c.1196A>G	NP_001295051.1:p.Asn399Ser
NM_003060.3:c.1124A>G	NP_003051.1:p.Asn375Ser
XM_011543590.1:c.506A>G	XP_011541892.1:p.Asn169Ser
XR_427718.1:n.1484A>G
XR_948290.1:n.1394-1672A>G
XR_948291.1:n.1478A>G
XM_011543590.2:c.506A>G	XP_011541892.1:p.Asn169Ser
XM_017009778.2:c.596A>G	XP_016865267.1:p.Asn199Ser
XR_001742215.1:n.1394-15A>G
XR_001742216.1:n.1413-15A>G
XR_427718.2:n.1484A>G
XR_948290.2:n.1394-1672A>G
XR_948291.2:n.1478A>G
NM_003060.4:c.1124A>G MANE Select	NP_003051.1:p.Asn375Ser
NM_001308122.2:c.1196A>G	NP_001295051.1:p.Asn399Ser