Canonical Allele Identifier: CA446346052

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729420G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393728G>A , CM000667.2:g.132393728G>A	GRCh38
NC_000005.9:g.131729420G>A , CM000667.1:g.131729420G>A	GRCh37
NC_000005.8:g.131757319G>A	NCBI36
NG_008982.1:g.29020G>A
NG_008982.2:g.29025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-457G>A	ENSP00000388838.2:n.1292-457G>A
ENST00000435065.7:c.1575G>A	ENSP00000402760.2:p.Leu525=
ENST00000448810.6:c.*355G>A	ENSP00000401860.2:n.*355G>A
ENST00000685543.1:n.1644G>A
ENST00000686757.1:c.*667G>A	ENSP00000510721.1:n.*667G>A
ENST00000686868.1:n.495G>A
ENST00000687740.1:n.4188G>A
ENST00000688151.1:n.2813G>A
ENST00000689271.1:c.1350G>A	ENSP00000510797.1:p.Leu450=
ENST00000690900.1:c.*667G>A	ENSP00000510703.1:n.*667G>A
ENST00000692212.1:n.4643G>A
ENST00000692355.1:c.756G>A
ENST00000692413.1:c.1485G>A	ENSP00000509374.1:p.Leu495=
ENST00000692825.1:c.1571G>A	ENSP00000509447.1:n.1571G>A
ENST00000693308.1:c.1551G>A	ENSP00000509770.1:p.Leu517=
ENST00000693763.1:n.2663G>A
ENST00000245407.8:c.1503G>A MANE Select	ENSP00000245407.3:p.Leu501=
ENST00000245407.7:c.1503G>A	ENSP00000245407.3:p.Leu501=
ENST00000435065.6:c.1575G>A	ENSP00000402760.2:p.Leu525=
ENST00000447841.5:c.347G>A
ENST00000448810.5:c.765G>A
ENST00000461013.5:n.8925G>A
ENST00000475308.1:n.2181G>A
NM_001308122.1:c.1575G>A	NP_001295051.1:p.Leu525=
NM_003060.3:c.1503G>A	NP_003051.1:p.Leu501=
XM_011543590.1:c.885G>A	XP_011541892.1:p.Leu295=
XR_948290.1:n.1629G>A
XM_011543590.2:c.885G>A	XP_011541892.1:p.Leu295=
XM_017009778.2:c.975G>A	XP_016865267.1:p.Leu325=
XR_001742215.1:n.1758G>A
XR_001742216.1:n.1777G>A
XR_427718.2:n.1863G>A
XR_948290.2:n.1629G>A
XR_948291.2:n.1857G>A
NM_003060.4:c.1503G>A MANE Select	NP_003051.1:p.Leu501=
NM_001308122.2:c.1575G>A	NP_001295051.1:p.Leu525=