Canonical Allele Identifier: CA360807643

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726485G>T (hg19) ; chr5:g.132390793G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390793G>T , CM000667.2:g.132390793G>T	GRCh38
NC_000005.9:g.131726485G>T , CM000667.1:g.131726485G>T	GRCh37
NC_000005.8:g.131754384G>T	NCBI36
NG_008982.1:g.26085G>T
NG_008982.2:g.26090G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.997G>T	ENSP00000388838.2:p.Ala333Ser
ENST00000435065.7:c.1228G>T	ENSP00000402760.2:p.Ala410Ser
ENST00000448810.6:c.*8G>T	ENSP00000401860.2:n.*8G>T
ENST00000685543.1:n.1297G>T
ENST00000686757.1:c.*320G>T	ENSP00000510721.1:n.*320G>T
ENST00000687740.1:n.3841G>T
ENST00000688151.1:n.2466G>T
ENST00000689271.1:c.1003G>T	ENSP00000510797.1:p.Ala335Ser
ENST00000690900.1:c.*320G>T	ENSP00000510703.1:n.*320G>T
ENST00000692212.1:n.2768G>T
ENST00000692355.1:c.409G>T
ENST00000692413.1:c.1138G>T	ENSP00000509374.1:p.Ala380Ser
ENST00000692825.1:c.1224G>T	ENSP00000509447.1:n.1224G>T
ENST00000693308.1:c.1204G>T	ENSP00000509770.1:p.Ala402Ser
ENST00000693763.1:n.2316G>T
ENST00000245407.8:c.1156G>T MANE Select	ENSP00000245407.3:p.Ala386Ser
ENST00000245407.7:c.1156G>T	ENSP00000245407.3:p.Ala386Ser
ENST00000435065.6:c.1228G>T	ENSP00000402760.2:p.Ala410Ser
ENST00000447841.5:c.112-1640G>T
ENST00000448810.5:c.418G>T
ENST00000461013.5:n.8578G>T
ENST00000475308.1:n.1834G>T
ENST00000479605.5:n.259G>T
NM_001308122.1:c.1228G>T	NP_001295051.1:p.Ala410Ser
NM_003060.3:c.1156G>T	NP_003051.1:p.Ala386Ser
XM_011543590.1:c.538G>T	XP_011541892.1:p.Ala180Ser
XR_427718.1:n.1516G>T
XR_948290.1:n.1394-1640G>T
XR_948291.1:n.1510G>T
XM_011543590.2:c.538G>T	XP_011541892.1:p.Ala180Ser
XM_017009778.2:c.628G>T	XP_016865267.1:p.Ala210Ser
XR_001742215.1:n.1411G>T
XR_001742216.1:n.1430G>T
XR_427718.2:n.1516G>T
XR_948290.2:n.1394-1640G>T
XR_948291.2:n.1510G>T
NM_003060.4:c.1156G>T MANE Select	NP_003051.1:p.Ala386Ser
NM_001308122.2:c.1228G>T	NP_001295051.1:p.Ala410Ser