Canonical Allele Identifier: CA360807646

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726486C>T (hg19) ; chr5:g.132390794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390794C>T , CM000667.2:g.132390794C>T	GRCh38
NC_000005.9:g.131726486C>T , CM000667.1:g.131726486C>T	GRCh37
NC_000005.8:g.131754385C>T	NCBI36
NG_008982.1:g.26086C>T
NG_008982.2:g.26091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.998C>T	ENSP00000388838.2:p.Ala333Val
ENST00000435065.7:c.1229C>T	ENSP00000402760.2:p.Ala410Val
ENST00000448810.6:c.*9C>T	ENSP00000401860.2:n.*9C>T
ENST00000685543.1:n.1298C>T
ENST00000686757.1:c.*321C>T	ENSP00000510721.1:n.*321C>T
ENST00000687740.1:n.3842C>T
ENST00000688151.1:n.2467C>T
ENST00000689271.1:c.1004C>T	ENSP00000510797.1:p.Ala335Val
ENST00000690900.1:c.*321C>T	ENSP00000510703.1:n.*321C>T
ENST00000692212.1:n.2769C>T
ENST00000692355.1:c.410C>T
ENST00000692413.1:c.1139C>T	ENSP00000509374.1:p.Ala380Val
ENST00000692825.1:c.1225C>T	ENSP00000509447.1:n.1225C>T
ENST00000693308.1:c.1205C>T	ENSP00000509770.1:p.Ala402Val
ENST00000693763.1:n.2317C>T
ENST00000245407.8:c.1157C>T MANE Select	ENSP00000245407.3:p.Ala386Val
ENST00000245407.7:c.1157C>T	ENSP00000245407.3:p.Ala386Val
ENST00000435065.6:c.1229C>T	ENSP00000402760.2:p.Ala410Val
ENST00000447841.5:c.112-1639C>T
ENST00000448810.5:c.419C>T
ENST00000461013.5:n.8579C>T
ENST00000475308.1:n.1835C>T
ENST00000479605.5:n.260C>T
NM_001308122.1:c.1229C>T	NP_001295051.1:p.Ala410Val
NM_003060.3:c.1157C>T	NP_003051.1:p.Ala386Val
XM_011543590.1:c.539C>T	XP_011541892.1:p.Ala180Val
XR_427718.1:n.1517C>T
XR_948290.1:n.1394-1639C>T
XR_948291.1:n.1511C>T
XM_011543590.2:c.539C>T	XP_011541892.1:p.Ala180Val
XM_017009778.2:c.629C>T	XP_016865267.1:p.Ala210Val
XR_001742215.1:n.1412C>T
XR_001742216.1:n.1431C>T
XR_427718.2:n.1517C>T
XR_948290.2:n.1394-1639C>T
XR_948291.2:n.1511C>T
NM_003060.4:c.1157C>T MANE Select	NP_003051.1:p.Ala386Val
NM_001308122.2:c.1229C>T	NP_001295051.1:p.Ala410Val