Canonical Allele Identifier: CA360807551

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726443A>C (hg19) ; chr5:g.132390751A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390751A>C , CM000667.2:g.132390751A>C	GRCh38
NC_000005.9:g.131726443A>C , CM000667.1:g.131726443A>C	GRCh37
NC_000005.8:g.131754342A>C	NCBI36
NG_008982.1:g.26043A>C
NG_008982.2:g.26048A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.955A>C	ENSP00000388838.2:p.Ile319Leu
ENST00000435065.7:c.1186A>C	ENSP00000402760.2:p.Ile396Leu
ENST00000448810.6:c.1053-25A>C	ENSP00000401860.2:n.1053-25A>C
ENST00000685543.1:n.1255A>C
ENST00000686757.1:c.*278A>C	ENSP00000510721.1:n.*278A>C
ENST00000687740.1:n.3799A>C
ENST00000688151.1:n.2424A>C
ENST00000689271.1:c.961A>C	ENSP00000510797.1:p.Ile321Leu
ENST00000690900.1:c.*278A>C	ENSP00000510703.1:n.*278A>C
ENST00000692212.1:n.2726A>C
ENST00000692355.1:c.367A>C
ENST00000692413.1:c.1096A>C	ENSP00000509374.1:p.Ile366Leu
ENST00000692825.1:c.1182A>C	ENSP00000509447.1:n.1182A>C
ENST00000693308.1:c.1162A>C	ENSP00000509770.1:p.Ile388Leu
ENST00000693763.1:n.2274A>C
ENST00000245407.8:c.1114A>C MANE Select	ENSP00000245407.3:p.Ile372Leu
ENST00000245407.7:c.1114A>C	ENSP00000245407.3:p.Ile372Leu
ENST00000435065.6:c.1186A>C	ENSP00000402760.2:p.Ile396Leu
ENST00000447841.5:c.112-1682A>C
ENST00000448810.5:c.401-25A>C
ENST00000461013.5:n.8536A>C
ENST00000475308.1:n.1792A>C
ENST00000479605.5:n.217A>C
NM_001308122.1:c.1186A>C	NP_001295051.1:p.Ile396Leu
NM_003060.3:c.1114A>C	NP_003051.1:p.Ile372Leu
XM_011543590.1:c.496A>C	XP_011541892.1:p.Ile166Leu
XR_427718.1:n.1474A>C
XR_948290.1:n.1394-1682A>C
XR_948291.1:n.1468A>C
XM_011543590.2:c.496A>C	XP_011541892.1:p.Ile166Leu
XM_017009778.2:c.586A>C	XP_016865267.1:p.Ile196Leu
XR_001742215.1:n.1394-25A>C
XR_001742216.1:n.1413-25A>C
XR_427718.2:n.1474A>C
XR_948290.2:n.1394-1682A>C
XR_948291.2:n.1468A>C
NM_003060.4:c.1114A>C MANE Select	NP_003051.1:p.Ile372Leu
NM_001308122.2:c.1186A>C	NP_001295051.1:p.Ile396Leu