Canonical Allele Identifier: CA3404145

Gene: SLC22A5

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392545C>T , CM000667.2:g.132392545C>T	GRCh38
NC_000005.9:g.131728237C>T , CM000667.1:g.131728237C>T	GRCh37
NC_000005.8:g.131756136C>T	NCBI36
NG_008982.1:g.27837C>T
NG_008982.2:g.27842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1221C>T	ENSP00000388838.2:p.Asn407=
ENST00000435065.7:c.1452C>T	ENSP00000402760.2:p.Asn484=
ENST00000448810.6:c.*232C>T	ENSP00000401860.2:n.*232C>T
ENST00000685543.1:n.1521C>T
ENST00000686757.1:c.*544C>T	ENSP00000510721.1:n.*544C>T
ENST00000687740.1:n.4065C>T
ENST00000688151.1:n.2690C>T
ENST00000689271.1:c.1227C>T	ENSP00000510797.1:p.Asn409=
ENST00000690900.1:c.*544C>T	ENSP00000510703.1:n.*544C>T
ENST00000692212.1:n.4520C>T
ENST00000692355.1:c.633C>T
ENST00000692413.1:c.1362C>T	ENSP00000509374.1:p.Asn454=
ENST00000692825.1:c.1448C>T	ENSP00000509447.1:n.1448C>T
ENST00000693308.1:c.1428C>T	ENSP00000509770.1:p.Asn476=
ENST00000693763.1:n.2540C>T
ENST00000245407.8:c.1380C>T MANE Select	ENSP00000245407.3:p.Asn460=
ENST00000245407.7:c.1380C>T	ENSP00000245407.3:p.Asn460=
ENST00000435065.6:c.1452C>T	ENSP00000402760.2:p.Asn484=
ENST00000447841.5:c.224C>T
ENST00000448810.5:c.642C>T
ENST00000461013.5:n.8802C>T
ENST00000475308.1:n.2058C>T
ENST00000479605.5:n.483C>T
NM_001308122.1:c.1452C>T	NP_001295051.1:p.Asn484=
NM_003060.3:c.1380C>T	NP_003051.1:p.Asn460=
XM_011543590.1:c.762C>T	XP_011541892.1:p.Asn254=
XR_948290.1:n.1506C>T
XM_011543590.2:c.762C>T	XP_011541892.1:p.Asn254=
XM_017009778.2:c.852C>T	XP_016865267.1:p.Asn284=
XR_001742215.1:n.1635C>T
XR_001742216.1:n.1654C>T
XR_427718.2:n.1740C>T
XR_948290.2:n.1506C>T
XR_948291.2:n.1734C>T
NM_003060.4:c.1380C>T MANE Select	NP_003051.1:p.Asn460=
NM_001308122.2:c.1452C>T	NP_001295051.1:p.Asn484=