Canonical Allele Identifier: CA360809883

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729449A>T (hg19) ; chr5:g.132393757A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393757A>T , CM000667.2:g.132393757A>T	GRCh38
NC_000005.9:g.131729449A>T , CM000667.1:g.131729449A>T	GRCh37
NC_000005.8:g.131757348A>T	NCBI36
NG_008982.1:g.29049A>T
NG_008982.2:g.29054A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-428A>T	ENSP00000388838.2:n.1292-428A>T
ENST00000435065.7:c.1604A>T	ENSP00000402760.2:p.Glu535Val
ENST00000448810.6:c.*384A>T	ENSP00000401860.2:n.*384A>T
ENST00000685543.1:n.1673A>T
ENST00000686757.1:c.*696A>T	ENSP00000510721.1:n.*696A>T
ENST00000686868.1:n.524A>T
ENST00000687740.1:n.4217A>T
ENST00000688151.1:n.2842A>T
ENST00000689271.1:c.1379A>T	ENSP00000510797.1:p.Glu460Val
ENST00000690900.1:c.*696A>T	ENSP00000510703.1:n.*696A>T
ENST00000692212.1:n.4672A>T
ENST00000692355.1:c.785A>T
ENST00000692413.1:c.1514A>T	ENSP00000509374.1:p.Glu505Val
ENST00000692825.1:c.1600A>T	ENSP00000509447.1:n.1600A>T
ENST00000693308.1:c.1580A>T	ENSP00000509770.1:p.Glu527Val
ENST00000693763.1:n.2692A>T
ENST00000245407.8:c.1532A>T MANE Select	ENSP00000245407.3:p.Glu511Val
ENST00000245407.7:c.1532A>T	ENSP00000245407.3:p.Glu511Val
ENST00000435065.6:c.1604A>T	ENSP00000402760.2:p.Glu535Val
ENST00000447841.5:c.376A>T
ENST00000448810.5:c.794A>T
ENST00000461013.5:n.8954A>T
ENST00000475308.1:n.2210A>T
NM_001308122.1:c.1604A>T	NP_001295051.1:p.Glu535Val
NM_003060.3:c.1532A>T	NP_003051.1:p.Glu511Val
XM_011543590.1:c.914A>T	XP_011541892.1:p.Glu305Val
XR_948290.1:n.1658A>T
XM_011543590.2:c.914A>T	XP_011541892.1:p.Glu305Val
XM_017009778.2:c.1004A>T	XP_016865267.1:p.Glu335Val
XR_001742215.1:n.1787A>T
XR_001742216.1:n.1806A>T
XR_427718.2:n.1892A>T
XR_948290.2:n.1658A>T
XR_948291.2:n.1886A>T
NM_003060.4:c.1532A>T MANE Select	NP_003051.1:p.Glu511Val
NM_001308122.2:c.1604A>T	NP_001295051.1:p.Glu535Val