Canonical Allele Identifier: CA360807446

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726404T>A (hg19) ; chr5:g.132390712T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390712T>A , CM000667.2:g.132390712T>A	GRCh38
NC_000005.9:g.131726404T>A , CM000667.1:g.131726404T>A	GRCh37
NC_000005.8:g.131754303T>A	NCBI36
NG_008982.1:g.26004T>A
NG_008982.2:g.26009T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.916T>A	ENSP00000388838.2:p.Phe306Ile
ENST00000435065.7:c.1147T>A	ENSP00000402760.2:p.Phe383Ile
ENST00000448810.6:c.1053-64T>A	ENSP00000401860.2:n.1053-64T>A
ENST00000685543.1:n.1216T>A
ENST00000686757.1:c.*239T>A	ENSP00000510721.1:n.*239T>A
ENST00000687740.1:n.3760T>A
ENST00000688151.1:n.2385T>A
ENST00000689271.1:c.922T>A	ENSP00000510797.1:p.Phe308Ile
ENST00000690900.1:c.*239T>A	ENSP00000510703.1:n.*239T>A
ENST00000692212.1:n.2687T>A
ENST00000692355.1:c.328T>A
ENST00000692413.1:c.1057T>A	ENSP00000509374.1:p.Phe353Ile
ENST00000692825.1:c.1143T>A	ENSP00000509447.1:n.1143T>A
ENST00000693308.1:c.1123T>A	ENSP00000509770.1:p.Phe375Ile
ENST00000693763.1:n.2235T>A
ENST00000245407.8:c.1075T>A MANE Select	ENSP00000245407.3:p.Phe359Ile
ENST00000245407.7:c.1075T>A	ENSP00000245407.3:p.Phe359Ile
ENST00000435065.6:c.1147T>A	ENSP00000402760.2:p.Phe383Ile
ENST00000447841.5:c.111+1691T>A
ENST00000448810.5:c.401-64T>A
ENST00000461013.5:n.8497T>A
ENST00000475308.1:n.1753T>A
ENST00000479605.5:n.178T>A
NM_001308122.1:c.1147T>A	NP_001295051.1:p.Phe383Ile
NM_003060.3:c.1075T>A	NP_003051.1:p.Phe359Ile
XM_011543590.1:c.457T>A	XP_011541892.1:p.Phe153Ile
XR_427718.1:n.1435T>A
XR_948290.1:n.1393+1691T>A
XR_948291.1:n.1429T>A
XM_011543590.2:c.457T>A	XP_011541892.1:p.Phe153Ile
XM_017009778.2:c.547T>A	XP_016865267.1:p.Phe183Ile
XR_001742215.1:n.1394-64T>A
XR_001742216.1:n.1413-64T>A
XR_427718.2:n.1435T>A
XR_948290.2:n.1393+1691T>A
XR_948291.2:n.1429T>A
NM_003060.4:c.1075T>A MANE Select	NP_003051.1:p.Phe359Ile
NM_001308122.2:c.1147T>A	NP_001295051.1:p.Phe383Ile