Canonical Allele Identifier: CA360808618

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728184T>A (hg19) ; chr5:g.132392492T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392492T>A , CM000667.2:g.132392492T>A	GRCh38
NC_000005.9:g.131728184T>A , CM000667.1:g.131728184T>A	GRCh37
NC_000005.8:g.131756083T>A	NCBI36
NG_008982.1:g.27784T>A
NG_008982.2:g.27789T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1168T>A	ENSP00000388838.2:p.Phe390Ile
ENST00000435065.7:c.1399T>A	ENSP00000402760.2:p.Phe467Ile
ENST00000448810.6:c.*179T>A	ENSP00000401860.2:n.*179T>A
ENST00000685543.1:n.1468T>A
ENST00000686757.1:c.*491T>A	ENSP00000510721.1:n.*491T>A
ENST00000687740.1:n.4012T>A
ENST00000688151.1:n.2637T>A
ENST00000689271.1:c.1174T>A	ENSP00000510797.1:p.Phe392Ile
ENST00000690900.1:c.*491T>A	ENSP00000510703.1:n.*491T>A
ENST00000692212.1:n.4467T>A
ENST00000692355.1:c.580T>A
ENST00000692413.1:c.1309T>A	ENSP00000509374.1:p.Phe437Ile
ENST00000692825.1:c.1395T>A	ENSP00000509447.1:n.1395T>A
ENST00000693308.1:c.1375T>A	ENSP00000509770.1:p.Phe459Ile
ENST00000693763.1:n.2487T>A
ENST00000245407.8:c.1327T>A MANE Select	ENSP00000245407.3:p.Phe443Ile
ENST00000245407.7:c.1327T>A	ENSP00000245407.3:p.Phe443Ile
ENST00000435065.6:c.1399T>A	ENSP00000402760.2:p.Phe467Ile
ENST00000447841.5:c.171T>A
ENST00000448810.5:c.589T>A
ENST00000461013.5:n.8749T>A
ENST00000475308.1:n.2005T>A
ENST00000479605.5:n.430T>A
NM_001308122.1:c.1399T>A	NP_001295051.1:p.Phe467Ile
NM_003060.3:c.1327T>A	NP_003051.1:p.Phe443Ile
XM_011543590.1:c.709T>A	XP_011541892.1:p.Phe237Ile
XR_948290.1:n.1453T>A
XM_011543590.2:c.709T>A	XP_011541892.1:p.Phe237Ile
XM_017009778.2:c.799T>A	XP_016865267.1:p.Phe267Ile
XR_001742215.1:n.1582T>A
XR_001742216.1:n.1601T>A
XR_427718.2:n.1687T>A
XR_948290.2:n.1453T>A
XR_948291.2:n.1681T>A
NM_003060.4:c.1327T>A MANE Select	NP_003051.1:p.Phe443Ile
NM_001308122.2:c.1399T>A	NP_001295051.1:p.Phe467Ile