Canonical Allele Identifier: CA360808676

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728191T>C (hg19) ; chr5:g.132392499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392499T>C , CM000667.2:g.132392499T>C	GRCh38
NC_000005.9:g.131728191T>C , CM000667.1:g.131728191T>C	GRCh37
NC_000005.8:g.131756090T>C	NCBI36
NG_008982.1:g.27791T>C
NG_008982.2:g.27796T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1175T>C	ENSP00000388838.2:p.Met392Thr
ENST00000435065.7:c.1406T>C	ENSP00000402760.2:p.Met469Thr
ENST00000448810.6:c.*186T>C	ENSP00000401860.2:n.*186T>C
ENST00000685543.1:n.1475T>C
ENST00000686757.1:c.*498T>C	ENSP00000510721.1:n.*498T>C
ENST00000687740.1:n.4019T>C
ENST00000688151.1:n.2644T>C
ENST00000689271.1:c.1181T>C	ENSP00000510797.1:p.Met394Thr
ENST00000690900.1:c.*498T>C	ENSP00000510703.1:n.*498T>C
ENST00000692212.1:n.4474T>C
ENST00000692355.1:c.587T>C
ENST00000692413.1:c.1316T>C	ENSP00000509374.1:p.Met439Thr
ENST00000692825.1:c.1402T>C	ENSP00000509447.1:n.1402T>C
ENST00000693308.1:c.1382T>C	ENSP00000509770.1:p.Met461Thr
ENST00000693763.1:n.2494T>C
ENST00000245407.8:c.1334T>C MANE Select	ENSP00000245407.3:p.Met445Thr
ENST00000245407.7:c.1334T>C	ENSP00000245407.3:p.Met445Thr
ENST00000435065.6:c.1406T>C	ENSP00000402760.2:p.Met469Thr
ENST00000447841.5:c.178T>C
ENST00000448810.5:c.596T>C
ENST00000461013.5:n.8756T>C
ENST00000475308.1:n.2012T>C
ENST00000479605.5:n.437T>C
NM_001308122.1:c.1406T>C	NP_001295051.1:p.Met469Thr
NM_003060.3:c.1334T>C	NP_003051.1:p.Met445Thr
XM_011543590.1:c.716T>C	XP_011541892.1:p.Met239Thr
XR_948290.1:n.1460T>C
XM_011543590.2:c.716T>C	XP_011541892.1:p.Met239Thr
XM_017009778.2:c.806T>C	XP_016865267.1:p.Met269Thr
XR_001742215.1:n.1589T>C
XR_001742216.1:n.1608T>C
XR_427718.2:n.1694T>C
XR_948290.2:n.1460T>C
XR_948291.2:n.1688T>C
NM_003060.4:c.1334T>C MANE Select	NP_003051.1:p.Met445Thr
NM_001308122.2:c.1406T>C	NP_001295051.1:p.Met469Thr