Canonical Allele Identifier: CA360809974

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729475A>C (hg19) ; chr5:g.132393783A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393783A>C , CM000667.2:g.132393783A>C	GRCh38
NC_000005.9:g.131729475A>C , CM000667.1:g.131729475A>C	GRCh37
NC_000005.8:g.131757374A>C	NCBI36
NG_008982.1:g.29075A>C
NG_008982.2:g.29080A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-402A>C	ENSP00000388838.2:n.1292-402A>C
ENST00000435065.7:c.1630A>C	ENSP00000402760.2:p.Thr544Pro
ENST00000448810.6:c.*410A>C	ENSP00000401860.2:n.*410A>C
ENST00000685543.1:n.1699A>C
ENST00000686757.1:c.*722A>C	ENSP00000510721.1:n.*722A>C
ENST00000686868.1:n.550A>C
ENST00000687740.1:n.4243A>C
ENST00000688151.1:n.2868A>C
ENST00000689271.1:c.1405A>C	ENSP00000510797.1:p.Thr469Pro
ENST00000690900.1:c.*722A>C	ENSP00000510703.1:n.*722A>C
ENST00000692212.1:n.4698A>C
ENST00000692355.1:c.811A>C
ENST00000692413.1:c.1540A>C	ENSP00000509374.1:p.Thr514Pro
ENST00000692825.1:c.1626A>C	ENSP00000509447.1:n.1626A>C
ENST00000693308.1:c.1606A>C	ENSP00000509770.1:p.Thr536Pro
ENST00000693763.1:n.2718A>C
ENST00000245407.8:c.1558A>C MANE Select	ENSP00000245407.3:p.Thr520Pro
ENST00000245407.7:c.1558A>C	ENSP00000245407.3:p.Thr520Pro
ENST00000435065.6:c.1630A>C	ENSP00000402760.2:p.Thr544Pro
ENST00000447841.5:c.402A>C
ENST00000448810.5:c.820A>C
ENST00000461013.5:n.8980A>C
ENST00000475308.1:n.2236A>C
NM_001308122.1:c.1630A>C	NP_001295051.1:p.Thr544Pro
NM_003060.3:c.1558A>C	NP_003051.1:p.Thr520Pro
XM_011543590.1:c.940A>C	XP_011541892.1:p.Thr314Pro
XR_948290.1:n.1684A>C
XM_011543590.2:c.940A>C	XP_011541892.1:p.Thr314Pro
XM_017009778.2:c.1030A>C	XP_016865267.1:p.Thr344Pro
XR_001742215.1:n.1813A>C
XR_001742216.1:n.1832A>C
XR_427718.2:n.1918A>C
XR_948290.2:n.1684A>C
XR_948291.2:n.1912A>C
NM_003060.4:c.1558A>C MANE Select	NP_003051.1:p.Thr520Pro
NM_001308122.2:c.1630A>C	NP_001295051.1:p.Thr544Pro