Canonical Allele Identifier: CA446337631

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726418T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390726T>C , CM000667.2:g.132390726T>C	GRCh38
NC_000005.9:g.131726418T>C , CM000667.1:g.131726418T>C	GRCh37
NC_000005.8:g.131754317T>C	NCBI36
NG_008982.1:g.26018T>C
NG_008982.2:g.26023T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.930T>C	ENSP00000388838.2:p.Leu310=
ENST00000435065.7:c.1161T>C	ENSP00000402760.2:p.Leu387=
ENST00000448810.6:c.1053-50T>C	ENSP00000401860.2:n.1053-50T>C
ENST00000685543.1:n.1230T>C
ENST00000686757.1:c.*253T>C	ENSP00000510721.1:n.*253T>C
ENST00000687740.1:n.3774T>C
ENST00000688151.1:n.2399T>C
ENST00000689271.1:c.936T>C	ENSP00000510797.1:p.Leu312=
ENST00000690900.1:c.*253T>C	ENSP00000510703.1:n.*253T>C
ENST00000692212.1:n.2701T>C
ENST00000692355.1:c.342T>C
ENST00000692413.1:c.1071T>C	ENSP00000509374.1:p.Leu357=
ENST00000692825.1:c.1157T>C	ENSP00000509447.1:n.1157T>C
ENST00000693308.1:c.1137T>C	ENSP00000509770.1:p.Leu379=
ENST00000693763.1:n.2249T>C
ENST00000245407.8:c.1089T>C MANE Select	ENSP00000245407.3:p.Leu363=
ENST00000245407.7:c.1089T>C	ENSP00000245407.3:p.Leu363=
ENST00000435065.6:c.1161T>C	ENSP00000402760.2:p.Leu387=
ENST00000447841.5:c.111+1705T>C
ENST00000448810.5:c.401-50T>C
ENST00000461013.5:n.8511T>C
ENST00000475308.1:n.1767T>C
ENST00000479605.5:n.192T>C
NM_001308122.1:c.1161T>C	NP_001295051.1:p.Leu387=
NM_003060.3:c.1089T>C	NP_003051.1:p.Leu363=
XM_011543590.1:c.471T>C	XP_011541892.1:p.Leu157=
XR_427718.1:n.1449T>C
XR_948290.1:n.1393+1705T>C
XR_948291.1:n.1443T>C
XM_011543590.2:c.471T>C	XP_011541892.1:p.Leu157=
XM_017009778.2:c.561T>C	XP_016865267.1:p.Leu187=
XR_001742215.1:n.1394-50T>C
XR_001742216.1:n.1413-50T>C
XR_427718.2:n.1449T>C
XR_948290.2:n.1393+1705T>C
XR_948291.2:n.1443T>C
NM_003060.4:c.1089T>C MANE Select	NP_003051.1:p.Leu363=
NM_001308122.2:c.1161T>C	NP_001295051.1:p.Leu387=