Canonical Allele Identifier: CA127196768

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1140605
• ClinVar RCV Id: RCV001477742
• dbSNP Id: rs1007882103
• gnomAD v2: 5-131706045-C-T
• gnomAD v4: 5-132370353-C-T
• MyVariant Identifiers: chr5:g.131706045C>T (hg19) ; chr5:g.132370353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370353C>T , CM000667.2:g.132370353C>T	GRCh38
NC_000005.9:g.131706045C>T , CM000667.1:g.131706045C>T	GRCh37
NC_000005.8:g.131733944C>T	NCBI36
NG_008982.1:g.5645C>T
NG_008982.2:g.5650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.381C>T	ENSP00000388838.2:p.Thr127=
ENST00000435065.7:c.381C>T	ENSP00000402760.2:p.Thr127=
ENST00000448810.6:c.381C>T	ENSP00000401860.2:p.Thr127=
ENST00000686757.1:c.381C>T	ENSP00000510721.1:p.Thr127=
ENST00000687740.1:n.515C>T
ENST00000689271.1:c.381C>T	ENSP00000510797.1:p.Thr127=
ENST00000690900.1:c.381C>T	ENSP00000510703.1:p.Thr127=
ENST00000692413.1:c.381C>T	ENSP00000509374.1:p.Thr127=
ENST00000692825.1:c.381C>T	ENSP00000509447.1:p.Thr127=
ENST00000693308.1:c.381C>T	ENSP00000509770.1:p.Thr127=
ENST00000693763.1:n.515C>T
ENST00000245407.8:c.381C>T MANE Select	ENSP00000245407.3:p.Thr127=
ENST00000245407.7:c.381C>T	ENSP00000245407.3:p.Thr127=
ENST00000415928.5:c.78C>T	ENSP00000388838.1:p.Thr26=
ENST00000435065.6:c.381C>T	ENSP00000402760.2:p.Thr127=
ENST00000437841.6:c.381C>T	ENSP00000400553.1:p.Thr127=
NM_001308122.1:c.381C>T	NP_001295051.1:p.Thr127=
NM_003060.3:c.381C>T	NP_003051.1:p.Thr127=
XR_427718.1:n.650C>T
XR_948290.1:n.650C>T
XR_948291.1:n.650C>T
XM_011543590.2:c.-251C>T	XP_011541892.1:n.-251C>T
XM_017009778.2:c.-44C>T	XP_016865267.1:n.-44C>T
XR_001742215.1:n.650C>T
XR_001742216.1:n.650C>T
XR_427718.2:n.650C>T
XR_948290.2:n.650C>T
XR_948291.2:n.650C>T
NM_003060.4:c.381C>T MANE Select	NP_003051.1:p.Thr127=
NM_001308122.2:c.381C>T	NP_001295051.1:p.Thr127=