Canonical Allele Identifier: CA360807664

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726496G>C (hg19) ; chr5:g.132390804G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390804G>C , CM000667.2:g.132390804G>C	GRCh38
NC_000005.9:g.131726496G>C , CM000667.1:g.131726496G>C	GRCh37
NC_000005.8:g.131754395G>C	NCBI36
NG_008982.1:g.26096G>C
NG_008982.2:g.26101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1008G>C	ENSP00000388838.2:p.Leu336Phe
ENST00000435065.7:c.1239G>C	ENSP00000402760.2:p.Leu413Phe
ENST00000448810.6:c.*19G>C	ENSP00000401860.2:n.*19G>C
ENST00000685543.1:n.1308G>C
ENST00000686757.1:c.*331G>C	ENSP00000510721.1:n.*331G>C
ENST00000687740.1:n.3852G>C
ENST00000688151.1:n.2477G>C
ENST00000689271.1:c.1014G>C	ENSP00000510797.1:p.Leu338Phe
ENST00000690900.1:c.*331G>C	ENSP00000510703.1:n.*331G>C
ENST00000692212.1:n.2779G>C
ENST00000692355.1:c.420G>C
ENST00000692413.1:c.1149G>C	ENSP00000509374.1:p.Leu383Phe
ENST00000692825.1:c.1235G>C	ENSP00000509447.1:n.1235G>C
ENST00000693308.1:c.1215G>C	ENSP00000509770.1:p.Leu405Phe
ENST00000693763.1:n.2327G>C
ENST00000245407.8:c.1167G>C MANE Select	ENSP00000245407.3:p.Leu389Phe
ENST00000245407.7:c.1167G>C	ENSP00000245407.3:p.Leu389Phe
ENST00000435065.6:c.1239G>C	ENSP00000402760.2:p.Leu413Phe
ENST00000447841.5:c.112-1629G>C
ENST00000448810.5:c.429G>C
ENST00000461013.5:n.8589G>C
ENST00000475308.1:n.1845G>C
ENST00000479605.5:n.270G>C
NM_001308122.1:c.1239G>C	NP_001295051.1:p.Leu413Phe
NM_003060.3:c.1167G>C	NP_003051.1:p.Leu389Phe
XM_011543590.1:c.549G>C	XP_011541892.1:p.Leu183Phe
XR_427718.1:n.1527G>C
XR_948290.1:n.1394-1629G>C
XR_948291.1:n.1521G>C
XM_011543590.2:c.549G>C	XP_011541892.1:p.Leu183Phe
XM_017009778.2:c.639G>C	XP_016865267.1:p.Leu213Phe
XR_001742215.1:n.1422G>C
XR_001742216.1:n.1441G>C
XR_427718.2:n.1527G>C
XR_948290.2:n.1394-1629G>C
XR_948291.2:n.1521G>C
NM_003060.4:c.1167G>C MANE Select	NP_003051.1:p.Leu389Phe
NM_001308122.2:c.1239G>C	NP_001295051.1:p.Leu413Phe