Canonical Allele Identifier: CA360804983

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721041C>A (hg19) ; chr5:g.132385349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385349C>A , CM000667.2:g.132385349C>A	GRCh38
NC_000005.9:g.131721041C>A , CM000667.1:g.131721041C>A	GRCh37
NC_000005.8:g.131748940C>A	NCBI36
NG_008982.1:g.20641C>A
NG_008982.2:g.20646C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1035C>A	ENSP00000388838.2:n.665+1035C>A
ENST00000435065.7:c.746C>A	ENSP00000402760.2:p.Ser249Ter
ENST00000448810.6:c.674C>A	ENSP00000401860.2:p.Ser225Ter
ENST00000686757.1:c.693C>A	ENSP00000510721.1:p.Val231=
ENST00000687740.1:n.1834C>A
ENST00000688151.1:n.1866C>A
ENST00000689271.1:c.671+1029C>A	ENSP00000510797.1:n.671+1029C>A
ENST00000690900.1:c.672-27C>A	ENSP00000510703.1:n.672-27C>A
ENST00000692212.1:n.500C>A
ENST00000692355.1:c.204+1048C>A
ENST00000692413.1:c.693C>A	ENSP00000509374.1:p.Val231=
ENST00000692825.1:c.742C>A	ENSP00000509447.1:n.742C>A
ENST00000693308.1:c.687C>A	ENSP00000509770.1:p.Val229=
ENST00000693763.1:n.1834C>A
ENST00000245407.8:c.674C>A MANE Select	ENSP00000245407.3:p.Ser225Ter
ENST00000245407.7:c.674C>A	ENSP00000245407.3:p.Ser225Ter
ENST00000415928.5:c.443C>A	ENSP00000388838.1:p.Ser148Ter
ENST00000435065.6:c.746C>A	ENSP00000402760.2:p.Ser249Ter
ENST00000437841.6:c.415C>A	ENSP00000400553.1:p.Gln139Lys
ENST00000448810.5:c.22C>A
ENST00000461013.5:n.8096C>A
NM_001308122.1:c.746C>A	NP_001295051.1:p.Ser249Ter
NM_003060.3:c.674C>A	NP_003051.1:p.Ser225Ter
XM_011543590.1:c.56C>A	XP_011541892.1:p.Ser19Ter
XR_427718.1:n.1034C>A
XR_948290.1:n.1015C>A
XR_948291.1:n.1028C>A
XM_011543590.2:c.56C>A	XP_011541892.1:p.Ser19Ter
XM_017009778.2:c.146C>A	XP_016865267.1:p.Ser49Ter
XR_001742215.1:n.1015C>A
XR_001742216.1:n.1034C>A
XR_427718.2:n.1034C>A
XR_948290.2:n.1015C>A
XR_948291.2:n.1028C>A
NM_003060.4:c.674C>A MANE Select	NP_003051.1:p.Ser225Ter
NM_001308122.2:c.746C>A	NP_001295051.1:p.Ser249Ter