Canonical Allele Identifier: CA360807799

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1415821
• ClinVar RCV Id: RCV001933267
• dbSNP Id: rs2126789869
• MyVariant Identifiers: chr5:g.131726564G>A (hg19) ; chr5:g.132390872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390872G>A , CM000667.2:g.132390872G>A	GRCh38
NC_000005.9:g.131726564G>A , CM000667.1:g.131726564G>A	GRCh37
NC_000005.8:g.131754463G>A	NCBI36
NG_008982.1:g.26164G>A
NG_008982.2:g.26169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1076G>A	ENSP00000388838.2:p.Ser359Asn
ENST00000435065.7:c.1307G>A	ENSP00000402760.2:p.Ser436Asn
ENST00000448810.6:c.*87G>A	ENSP00000401860.2:n.*87G>A
ENST00000685543.1:n.1376G>A
ENST00000686757.1:c.*399G>A	ENSP00000510721.1:n.*399G>A
ENST00000687740.1:n.3920G>A
ENST00000688151.1:n.2545G>A
ENST00000689271.1:c.1082G>A	ENSP00000510797.1:p.Ser361Asn
ENST00000690900.1:c.*399G>A	ENSP00000510703.1:n.*399G>A
ENST00000692212.1:n.2847G>A
ENST00000692355.1:c.488G>A
ENST00000692413.1:c.1217G>A	ENSP00000509374.1:p.Ser406Asn
ENST00000692825.1:c.1303G>A	ENSP00000509447.1:n.1303G>A
ENST00000693308.1:c.1283G>A	ENSP00000509770.1:p.Ser428Asn
ENST00000693763.1:n.2395G>A
ENST00000245407.8:c.1235G>A MANE Select	ENSP00000245407.3:p.Ser412Asn
ENST00000245407.7:c.1235G>A	ENSP00000245407.3:p.Ser412Asn
ENST00000435065.6:c.1307G>A	ENSP00000402760.2:p.Ser436Asn
ENST00000447841.5:c.112-1561G>A
ENST00000448810.5:c.497G>A
ENST00000461013.5:n.8657G>A
ENST00000475308.1:n.1913G>A
ENST00000479605.5:n.338G>A
NM_001308122.1:c.1307G>A	NP_001295051.1:p.Ser436Asn
NM_003060.3:c.1235G>A	NP_003051.1:p.Ser412Asn
XM_011543590.1:c.617G>A	XP_011541892.1:p.Ser206Asn
XR_427718.1:n.1595G>A
XR_948290.1:n.1394-1561G>A
XR_948291.1:n.1589G>A
XM_011543590.2:c.617G>A	XP_011541892.1:p.Ser206Asn
XM_017009778.2:c.707G>A	XP_016865267.1:p.Ser236Asn
XR_001742215.1:n.1490G>A
XR_001742216.1:n.1509G>A
XR_427718.2:n.1595G>A
XR_948290.2:n.1394-1561G>A
XR_948291.2:n.1589G>A
NM_003060.4:c.1235G>A MANE Select	NP_003051.1:p.Ser412Asn
NM_001308122.2:c.1307G>A	NP_001295051.1:p.Ser436Asn