Canonical Allele Identifier: CA360809986

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729478A>T (hg19) ; chr5:g.132393786A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393786A>T , CM000667.2:g.132393786A>T	GRCh38
NC_000005.9:g.131729478A>T , CM000667.1:g.131729478A>T	GRCh37
NC_000005.8:g.131757377A>T	NCBI36
NG_008982.1:g.29078A>T
NG_008982.2:g.29083A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-399A>T	ENSP00000388838.2:n.1292-399A>T
ENST00000435065.7:c.1633A>T	ENSP00000402760.2:p.Ile545Phe
ENST00000448810.6:c.*413A>T	ENSP00000401860.2:n.*413A>T
ENST00000685543.1:n.1702A>T
ENST00000686757.1:c.*725A>T	ENSP00000510721.1:n.*725A>T
ENST00000686868.1:n.553A>T
ENST00000687740.1:n.4246A>T
ENST00000688151.1:n.2871A>T
ENST00000689271.1:c.1408A>T	ENSP00000510797.1:p.Ile470Phe
ENST00000690900.1:c.*725A>T	ENSP00000510703.1:n.*725A>T
ENST00000692212.1:n.4701A>T
ENST00000692355.1:c.814A>T
ENST00000692413.1:c.1543A>T	ENSP00000509374.1:p.Ile515Phe
ENST00000692825.1:c.1629A>T	ENSP00000509447.1:n.1629A>T
ENST00000693308.1:c.1609A>T	ENSP00000509770.1:p.Ile537Phe
ENST00000693763.1:n.2721A>T
ENST00000245407.8:c.1561A>T MANE Select	ENSP00000245407.3:p.Ile521Phe
ENST00000245407.7:c.1561A>T	ENSP00000245407.3:p.Ile521Phe
ENST00000435065.6:c.1633A>T	ENSP00000402760.2:p.Ile545Phe
ENST00000447841.5:c.405A>T
ENST00000448810.5:c.823A>T
ENST00000461013.5:n.8983A>T
ENST00000475308.1:n.2239A>T
NM_001308122.1:c.1633A>T	NP_001295051.1:p.Ile545Phe
NM_003060.3:c.1561A>T	NP_003051.1:p.Ile521Phe
XM_011543590.1:c.943A>T	XP_011541892.1:p.Ile315Phe
XR_948290.1:n.1687A>T
XM_011543590.2:c.943A>T	XP_011541892.1:p.Ile315Phe
XM_017009778.2:c.1033A>T	XP_016865267.1:p.Ile345Phe
XR_001742215.1:n.1816A>T
XR_001742216.1:n.1835A>T
XR_427718.2:n.1921A>T
XR_948290.2:n.1687A>T
XR_948291.2:n.1915A>T
NM_003060.4:c.1561A>T MANE Select	NP_003051.1:p.Ile521Phe
NM_001308122.2:c.1633A>T	NP_001295051.1:p.Ile545Phe