Canonical Allele Identifier: CA360809956

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729470C>A (hg19) ; chr5:g.132393778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393778C>A , CM000667.2:g.132393778C>A	GRCh38
NC_000005.9:g.131729470C>A , CM000667.1:g.131729470C>A	GRCh37
NC_000005.8:g.131757369C>A	NCBI36
NG_008982.1:g.29070C>A
NG_008982.2:g.29075C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-407C>A	ENSP00000388838.2:n.1292-407C>A
ENST00000435065.7:c.1625C>A	ENSP00000402760.2:p.Pro542Gln
ENST00000448810.6:c.*405C>A	ENSP00000401860.2:n.*405C>A
ENST00000685543.1:n.1694C>A
ENST00000686757.1:c.*717C>A	ENSP00000510721.1:n.*717C>A
ENST00000686868.1:n.545C>A
ENST00000687740.1:n.4238C>A
ENST00000688151.1:n.2863C>A
ENST00000689271.1:c.1400C>A	ENSP00000510797.1:p.Pro467Gln
ENST00000690900.1:c.*717C>A	ENSP00000510703.1:n.*717C>A
ENST00000692212.1:n.4693C>A
ENST00000692355.1:c.806C>A
ENST00000692413.1:c.1535C>A	ENSP00000509374.1:p.Pro512Gln
ENST00000692825.1:c.1621C>A	ENSP00000509447.1:n.1621C>A
ENST00000693308.1:c.1601C>A	ENSP00000509770.1:p.Pro534Gln
ENST00000693763.1:n.2713C>A
ENST00000245407.8:c.1553C>A MANE Select	ENSP00000245407.3:p.Pro518Gln
ENST00000245407.7:c.1553C>A	ENSP00000245407.3:p.Pro518Gln
ENST00000435065.6:c.1625C>A	ENSP00000402760.2:p.Pro542Gln
ENST00000447841.5:c.397C>A
ENST00000448810.5:c.815C>A
ENST00000461013.5:n.8975C>A
ENST00000475308.1:n.2231C>A
NM_001308122.1:c.1625C>A	NP_001295051.1:p.Pro542Gln
NM_003060.3:c.1553C>A	NP_003051.1:p.Pro518Gln
XM_011543590.1:c.935C>A	XP_011541892.1:p.Pro312Gln
XR_948290.1:n.1679C>A
XM_011543590.2:c.935C>A	XP_011541892.1:p.Pro312Gln
XM_017009778.2:c.1025C>A	XP_016865267.1:p.Pro342Gln
XR_001742215.1:n.1808C>A
XR_001742216.1:n.1827C>A
XR_427718.2:n.1913C>A
XR_948290.2:n.1679C>A
XR_948291.2:n.1907C>A
NM_003060.4:c.1553C>A MANE Select	NP_003051.1:p.Pro518Gln
NM_001308122.2:c.1625C>A	NP_001295051.1:p.Pro542Gln