Canonical Allele Identifier: CA360804955

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721028A>T (hg19) ; chr5:g.132385336A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385336A>T , CM000667.2:g.132385336A>T	GRCh38
NC_000005.9:g.131721028A>T , CM000667.1:g.131721028A>T	GRCh37
NC_000005.8:g.131748927A>T	NCBI36
NG_008982.1:g.20628A>T
NG_008982.2:g.20633A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1022A>T	ENSP00000388838.2:n.665+1022A>T
ENST00000435065.7:c.733A>T	ENSP00000402760.2:p.Ile245Phe
ENST00000448810.6:c.661A>T	ENSP00000401860.2:p.Ile221Phe
ENST00000686757.1:c.680A>T	ENSP00000510721.1:p.Asn227Ile
ENST00000687740.1:n.1821A>T
ENST00000688151.1:n.1853A>T
ENST00000689271.1:c.671+1016A>T	ENSP00000510797.1:n.671+1016A>T
ENST00000690900.1:c.672-40A>T	ENSP00000510703.1:n.672-40A>T
ENST00000692212.1:n.487A>T
ENST00000692355.1:c.204+1035A>T
ENST00000692413.1:c.680A>T	ENSP00000509374.1:p.Asn227Ile
ENST00000692825.1:c.729A>T	ENSP00000509447.1:n.729A>T
ENST00000693308.1:c.674A>T	ENSP00000509770.1:p.Asn225Ile
ENST00000693763.1:n.1821A>T
ENST00000245407.8:c.661A>T MANE Select	ENSP00000245407.3:p.Ile221Phe
ENST00000245407.7:c.661A>T	ENSP00000245407.3:p.Ile221Phe
ENST00000415928.5:c.430A>T	ENSP00000388838.1:p.Ile144Phe
ENST00000435065.6:c.733A>T	ENSP00000402760.2:p.Ile245Phe
ENST00000437841.6:c.402A>T	ENSP00000400553.1:p.Lys134Asn
ENST00000448810.5:c.9A>T
ENST00000461013.5:n.8083A>T
NM_001308122.1:c.733A>T	NP_001295051.1:p.Ile245Phe
NM_003060.3:c.661A>T	NP_003051.1:p.Ile221Phe
XM_011543590.1:c.43A>T	XP_011541892.1:p.Ile15Phe
XR_427718.1:n.1021A>T
XR_948290.1:n.1002A>T
XR_948291.1:n.1015A>T
XM_011543590.2:c.43A>T	XP_011541892.1:p.Ile15Phe
XM_017009778.2:c.133A>T	XP_016865267.1:p.Ile45Phe
XR_001742215.1:n.1002A>T
XR_001742216.1:n.1021A>T
XR_427718.2:n.1021A>T
XR_948290.2:n.1002A>T
XR_948291.2:n.1015A>T
NM_003060.4:c.661A>T MANE Select	NP_003051.1:p.Ile221Phe
NM_001308122.2:c.733A>T	NP_001295051.1:p.Ile245Phe