Canonical Allele Identifier: CA360809304

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392597C>T , CM000667.2:g.132392597C>T	GRCh38
NC_000005.9:g.131728289C>T , CM000667.1:g.131728289C>T	GRCh37
NC_000005.8:g.131756188C>T	NCBI36
NG_008982.1:g.27889C>T
NG_008982.2:g.27894C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1432C>T MANE Select	NP_003051.1:p.Pro478Ser
ENST00000245407.8:c.1432C>T MANE Select	ENSP00000245407.3:p.Pro478Ser
NM_001308122.1:c.1504C>T	NP_001295051.1:p.Pro502Ser
NM_001308122.2:c.1504C>T	NP_001295051.1:p.Pro502Ser
NM_003060.3:c.1432C>T	NP_003051.1:p.Pro478Ser
ENST00000245407.7:c.1432C>T	ENSP00000245407.3:p.Pro478Ser
ENST00000415928.6:c.1273C>T	ENSP00000388838.2:p.Pro425Ser
ENST00000435065.6:c.1504C>T	ENSP00000402760.2:p.Pro502Ser
ENST00000435065.7:c.1504C>T	ENSP00000402760.2:p.Pro502Ser
ENST00000447841.5:c.276C>T
ENST00000448810.5:c.694C>T
ENST00000448810.6:c.*284C>T	ENSP00000401860.2:n.*284C>T
ENST00000461013.5:n.8854C>T
ENST00000475308.1:n.2110C>T
ENST00000479605.5:n.535C>T
ENST00000685543.1:n.1573C>T
ENST00000686757.1:c.*596C>T	ENSP00000510721.1:n.*596C>T
ENST00000687740.1:n.4117C>T
ENST00000688151.1:n.2742C>T
ENST00000689271.1:c.1279C>T	ENSP00000510797.1:p.Pro427Ser
ENST00000690900.1:c.*596C>T	ENSP00000510703.1:n.*596C>T
ENST00000692212.1:n.4572C>T
ENST00000692355.1:c.685C>T
ENST00000692413.1:c.1414C>T	ENSP00000509374.1:p.Pro472Ser
ENST00000692825.1:c.1500C>T	ENSP00000509447.1:n.1500C>T
ENST00000693308.1:c.1480C>T	ENSP00000509770.1:p.Pro494Ser
ENST00000693763.1:n.2592C>T
XM_011543590.1:c.814C>T	XP_011541892.1:p.Pro272Ser
XM_011543590.2:c.814C>T	XP_011541892.1:p.Pro272Ser
XM_017009778.2:c.904C>T	XP_016865267.1:p.Pro302Ser
XR_001742215.1:n.1687C>T
XR_001742216.1:n.1706C>T
XR_427718.2:n.1792C>T
XR_948290.1:n.1558C>T
XR_948290.2:n.1558C>T
XR_948291.2:n.1786C>T