Canonical Allele Identifier: CA360809869

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729446C>A (hg19) ; chr5:g.132393754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393754C>A , CM000667.2:g.132393754C>A	GRCh38
NC_000005.9:g.131729446C>A , CM000667.1:g.131729446C>A	GRCh37
NC_000005.8:g.131757345C>A	NCBI36
NG_008982.1:g.29046C>A
NG_008982.2:g.29051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-431C>A	ENSP00000388838.2:n.1292-431C>A
ENST00000435065.7:c.1601C>A	ENSP00000402760.2:p.Pro534Gln
ENST00000448810.6:c.*381C>A	ENSP00000401860.2:n.*381C>A
ENST00000685543.1:n.1670C>A
ENST00000686757.1:c.*693C>A	ENSP00000510721.1:n.*693C>A
ENST00000686868.1:n.521C>A
ENST00000687740.1:n.4214C>A
ENST00000688151.1:n.2839C>A
ENST00000689271.1:c.1376C>A	ENSP00000510797.1:p.Pro459Gln
ENST00000690900.1:c.*693C>A	ENSP00000510703.1:n.*693C>A
ENST00000692212.1:n.4669C>A
ENST00000692355.1:c.782C>A
ENST00000692413.1:c.1511C>A	ENSP00000509374.1:p.Pro504Gln
ENST00000692825.1:c.1597C>A	ENSP00000509447.1:n.1597C>A
ENST00000693308.1:c.1577C>A	ENSP00000509770.1:p.Pro526Gln
ENST00000693763.1:n.2689C>A
ENST00000245407.8:c.1529C>A MANE Select	ENSP00000245407.3:p.Pro510Gln
ENST00000245407.7:c.1529C>A	ENSP00000245407.3:p.Pro510Gln
ENST00000435065.6:c.1601C>A	ENSP00000402760.2:p.Pro534Gln
ENST00000447841.5:c.373C>A
ENST00000448810.5:c.791C>A
ENST00000461013.5:n.8951C>A
ENST00000475308.1:n.2207C>A
NM_001308122.1:c.1601C>A	NP_001295051.1:p.Pro534Gln
NM_003060.3:c.1529C>A	NP_003051.1:p.Pro510Gln
XM_011543590.1:c.911C>A	XP_011541892.1:p.Pro304Gln
XR_948290.1:n.1655C>A
XM_011543590.2:c.911C>A	XP_011541892.1:p.Pro304Gln
XM_017009778.2:c.1001C>A	XP_016865267.1:p.Pro334Gln
XR_001742215.1:n.1784C>A
XR_001742216.1:n.1803C>A
XR_427718.2:n.1889C>A
XR_948290.2:n.1655C>A
XR_948291.2:n.1883C>A
NM_003060.4:c.1529C>A MANE Select	NP_003051.1:p.Pro510Gln
NM_001308122.2:c.1601C>A	NP_001295051.1:p.Pro534Gln