Canonical Allele Identifier: CA360807831

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726578A>T (hg19) ; chr5:g.132390886A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390886A>T , CM000667.2:g.132390886A>T	GRCh38
NC_000005.9:g.131726578A>T , CM000667.1:g.131726578A>T	GRCh37
NC_000005.8:g.131754477A>T	NCBI36
NG_008982.1:g.26178A>T
NG_008982.2:g.26183A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1090A>T	ENSP00000388838.2:p.Met364Leu
ENST00000435065.7:c.1321A>T	ENSP00000402760.2:p.Met441Leu
ENST00000448810.6:c.*101A>T	ENSP00000401860.2:n.*101A>T
ENST00000685543.1:n.1390A>T
ENST00000686757.1:c.*413A>T	ENSP00000510721.1:n.*413A>T
ENST00000687740.1:n.3934A>T
ENST00000688151.1:n.2559A>T
ENST00000689271.1:c.1096A>T	ENSP00000510797.1:p.Met366Leu
ENST00000690900.1:c.*413A>T	ENSP00000510703.1:n.*413A>T
ENST00000692212.1:n.2861A>T
ENST00000692355.1:c.502A>T
ENST00000692413.1:c.1231A>T	ENSP00000509374.1:p.Met411Leu
ENST00000692825.1:c.1317A>T	ENSP00000509447.1:n.1317A>T
ENST00000693308.1:c.1297A>T	ENSP00000509770.1:p.Met433Leu
ENST00000693763.1:n.2409A>T
ENST00000245407.8:c.1249A>T MANE Select	ENSP00000245407.3:p.Met417Leu
ENST00000245407.7:c.1249A>T	ENSP00000245407.3:p.Met417Leu
ENST00000435065.6:c.1321A>T	ENSP00000402760.2:p.Met441Leu
ENST00000447841.5:c.112-1547A>T
ENST00000448810.5:c.511A>T
ENST00000461013.5:n.8671A>T
ENST00000475308.1:n.1927A>T
ENST00000479605.5:n.352A>T
NM_001308122.1:c.1321A>T	NP_001295051.1:p.Met441Leu
NM_003060.3:c.1249A>T	NP_003051.1:p.Met417Leu
XM_011543590.1:c.631A>T	XP_011541892.1:p.Met211Leu
XR_427718.1:n.1609A>T
XR_948290.1:n.1394-1547A>T
XR_948291.1:n.1603A>T
XM_011543590.2:c.631A>T	XP_011541892.1:p.Met211Leu
XM_017009778.2:c.721A>T	XP_016865267.1:p.Met241Leu
XR_001742215.1:n.1504A>T
XR_001742216.1:n.1523A>T
XR_427718.2:n.1609A>T
XR_948290.2:n.1394-1547A>T
XR_948291.2:n.1603A>T
NM_003060.4:c.1249A>T MANE Select	NP_003051.1:p.Met417Leu
NM_001308122.2:c.1321A>T	NP_001295051.1:p.Met441Leu