Canonical Allele Identifier: CA360807798

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726563A>T (hg19) ; chr5:g.132390871A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390871A>T , CM000667.2:g.132390871A>T	GRCh38
NC_000005.9:g.131726563A>T , CM000667.1:g.131726563A>T	GRCh37
NC_000005.8:g.131754462A>T	NCBI36
NG_008982.1:g.26163A>T
NG_008982.2:g.26168A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1075A>T	ENSP00000388838.2:p.Ser359Cys
ENST00000435065.7:c.1306A>T	ENSP00000402760.2:p.Ser436Cys
ENST00000448810.6:c.*86A>T	ENSP00000401860.2:n.*86A>T
ENST00000685543.1:n.1375A>T
ENST00000686757.1:c.*398A>T	ENSP00000510721.1:n.*398A>T
ENST00000687740.1:n.3919A>T
ENST00000688151.1:n.2544A>T
ENST00000689271.1:c.1081A>T	ENSP00000510797.1:p.Ser361Cys
ENST00000690900.1:c.*398A>T	ENSP00000510703.1:n.*398A>T
ENST00000692212.1:n.2846A>T
ENST00000692355.1:c.487A>T
ENST00000692413.1:c.1216A>T	ENSP00000509374.1:p.Ser406Cys
ENST00000692825.1:c.1302A>T	ENSP00000509447.1:n.1302A>T
ENST00000693308.1:c.1282A>T	ENSP00000509770.1:p.Ser428Cys
ENST00000693763.1:n.2394A>T
ENST00000245407.8:c.1234A>T MANE Select	ENSP00000245407.3:p.Ser412Cys
ENST00000245407.7:c.1234A>T	ENSP00000245407.3:p.Ser412Cys
ENST00000435065.6:c.1306A>T	ENSP00000402760.2:p.Ser436Cys
ENST00000447841.5:c.112-1562A>T
ENST00000448810.5:c.496A>T
ENST00000461013.5:n.8656A>T
ENST00000475308.1:n.1912A>T
ENST00000479605.5:n.337A>T
NM_001308122.1:c.1306A>T	NP_001295051.1:p.Ser436Cys
NM_003060.3:c.1234A>T	NP_003051.1:p.Ser412Cys
XM_011543590.1:c.616A>T	XP_011541892.1:p.Ser206Cys
XR_427718.1:n.1594A>T
XR_948290.1:n.1394-1562A>T
XR_948291.1:n.1588A>T
XM_011543590.2:c.616A>T	XP_011541892.1:p.Ser206Cys
XM_017009778.2:c.706A>T	XP_016865267.1:p.Ser236Cys
XR_001742215.1:n.1489A>T
XR_001742216.1:n.1508A>T
XR_427718.2:n.1594A>T
XR_948290.2:n.1394-1562A>T
XR_948291.2:n.1588A>T
NM_003060.4:c.1234A>T MANE Select	NP_003051.1:p.Ser412Cys
NM_001308122.2:c.1306A>T	NP_001295051.1:p.Ser436Cys