Canonical Allele Identifier: CA293500

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394243C>T , CM000667.2:g.132394243C>T	GRCh38
NC_000005.9:g.131729935C>T , CM000667.1:g.131729935C>T	GRCh37
NC_000005.8:g.131757834C>T	NCBI36
NG_008982.1:g.29535C>T
NG_008982.2:g.29540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*54C>T	ENSP00000388838.2:n.*54C>T
ENST00000435065.7:c.1717C>T	ENSP00000402760.2:p.Pro573Ser
ENST00000448810.6:c.*497C>T	ENSP00000401860.2:n.*497C>T
ENST00000685543.1:n.1786C>T
ENST00000686757.1:c.*809C>T	ENSP00000510721.1:n.*809C>T
ENST00000686868.1:n.637C>T
ENST00000687740.1:n.4330C>T
ENST00000688151.1:n.2955C>T
ENST00000689271.1:c.1492C>T	ENSP00000510797.1:p.Pro498Ser
ENST00000690900.1:c.*809C>T	ENSP00000510703.1:n.*809C>T
ENST00000692212.1:n.4785C>T
ENST00000692355.1:c.898C>T
ENST00000692413.1:c.1627C>T	ENSP00000509374.1:p.Pro543Ser
ENST00000692825.1:c.1713C>T	ENSP00000509447.1:n.1713C>T
ENST00000693308.1:c.1693C>T	ENSP00000509770.1:p.Pro565Ser
ENST00000693763.1:n.2805C>T
ENST00000245407.8:c.1645C>T MANE Select	ENSP00000245407.3:p.Pro549Ser
ENST00000245407.7:c.1645C>T	ENSP00000245407.3:p.Pro549Ser
ENST00000435065.6:c.1717C>T	ENSP00000402760.2:p.Pro573Ser
ENST00000447841.5:c.489C>T
ENST00000461013.5:n.9067C>T
ENST00000475308.1:n.2323C>T
NM_001308122.1:c.1717C>T	NP_001295051.1:p.Pro573Ser
NM_003060.3:c.1645C>T	NP_003051.1:p.Pro549Ser
XM_011543590.1:c.1027C>T	XP_011541892.1:p.Pro343Ser
XR_948290.1:n.1771C>T
XM_011543590.2:c.1027C>T	XP_011541892.1:p.Pro343Ser
XM_017009778.2:c.1117C>T	XP_016865267.1:p.Pro373Ser
XR_001742215.1:n.1900C>T
XR_001742216.1:n.1919C>T
XR_427718.2:n.2005C>T
XR_948290.2:n.1771C>T
XR_948291.2:n.1999C>T
NM_003060.4:c.1645C>T MANE Select	NP_003051.1:p.Pro549Ser
NM_001308122.2:c.1717C>T	NP_001295051.1:p.Pro573Ser