Canonical Allele Identifier: CA2675199660

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132378181-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378181C>T , CM000667.2:g.132378181C>T	GRCh38
NC_000005.9:g.131713873C>T , CM000667.1:g.131713873C>T	GRCh37
NC_000005.8:g.131741772C>T	NCBI36
NG_008982.1:g.13473C>T
NG_008982.2:g.13478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.394-197C>T	ENSP00000388838.2:n.394-197C>T
ENST00000435065.7:c.411C>T	ENSP00000402760.2:p.Tyr137=
ENST00000448810.6:c.394-197C>T	ENSP00000401860.2:n.394-197C>T
ENST00000686757.1:c.394-197C>T	ENSP00000510721.1:n.394-197C>T
ENST00000687740.1:n.528-197C>T
ENST00000689271.1:c.394-197C>T	ENSP00000510797.1:n.394-197C>T
ENST00000690900.1:c.394-197C>T	ENSP00000510703.1:n.394-197C>T
ENST00000692413.1:c.394-197C>T	ENSP00000509374.1:n.394-197C>T
ENST00000692825.1:c.407C>T	ENSP00000509447.1:p.Thr136Ile
ENST00000693308.1:c.394-197C>T	ENSP00000509770.1:n.394-197C>T
ENST00000693763.1:n.528-197C>T
ENST00000245407.8:c.394-197C>T MANE Select	ENSP00000245407.3:n.394-197C>T
ENST00000245407.7:c.394-197C>T	ENSP00000245407.3:n.394-197C>T
ENST00000415928.5:c.108C>T	ENSP00000388838.1:p.Tyr36=
ENST00000435065.6:c.411C>T	ENSP00000402760.2:p.Tyr137=
ENST00000437841.6:c.394-7147C>T	ENSP00000400553.1:n.394-7147C>T
ENST00000461013.5:n.2096C>T
NM_001308122.1:c.411C>T	NP_001295051.1:p.Tyr137=
NM_003060.3:c.394-197C>T	NP_003051.1:n.394-197C>T
XR_427718.1:n.680C>T
XR_948290.1:n.680C>T
XR_948291.1:n.680C>T
XM_011543590.2:c.-238-197C>T	XP_011541892.1:n.-238-197C>T
XM_017009778.2:c.-31-5966C>T	XP_016865267.1:n.-31-5966C>T
XR_001742215.1:n.680C>T
XR_001742216.1:n.680C>T
XR_427718.2:n.680C>T
XR_948290.2:n.680C>T
XR_948291.2:n.680C>T
NM_003060.4:c.394-197C>T MANE Select	NP_003051.1:n.394-197C>T
NM_001308122.2:c.411C>T	NP_001295051.1:p.Tyr137=