Canonical Allele Identifier: CA360809959

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-407C>T	ENSP00000388838.2:n.1292-407C>T
ENST00000435065.7:c.1625C>T	ENSP00000402760.2:p.Pro542Leu
ENST00000448810.6:c.*405C>T	ENSP00000401860.2:n.*405C>T
ENST00000685543.1:n.1694C>T
ENST00000686757.1:c.*717C>T	ENSP00000510721.1:n.*717C>T
ENST00000686868.1:n.545C>T
ENST00000687740.1:n.4238C>T
ENST00000688151.1:n.2863C>T
ENST00000689271.1:c.1400C>T	ENSP00000510797.1:p.Pro467Leu
ENST00000690900.1:c.*717C>T	ENSP00000510703.1:n.*717C>T
ENST00000692212.1:n.4693C>T
ENST00000692355.1:c.806C>T
ENST00000692413.1:c.1535C>T	ENSP00000509374.1:p.Pro512Leu
ENST00000692825.1:c.1621C>T	ENSP00000509447.1:n.1621C>T
ENST00000693308.1:c.1601C>T	ENSP00000509770.1:p.Pro534Leu
ENST00000693763.1:n.2713C>T
ENST00000245407.8:c.1553C>T MANE Select	ENSP00000245407.3:p.Pro518Leu
ENST00000245407.7:c.1553C>T	ENSP00000245407.3:p.Pro518Leu
ENST00000435065.6:c.1625C>T	ENSP00000402760.2:p.Pro542Leu
ENST00000447841.5:c.397C>T
ENST00000448810.5:c.815C>T
ENST00000461013.5:n.8975C>T
ENST00000475308.1:n.2231C>T
NM_001308122.1:c.1625C>T	NP_001295051.1:p.Pro542Leu
NM_003060.3:c.1553C>T	NP_003051.1:p.Pro518Leu
XM_011543590.1:c.935C>T	XP_011541892.1:p.Pro312Leu
XR_948290.1:n.1679C>T
XM_011543590.2:c.935C>T	XP_011541892.1:p.Pro312Leu
XM_017009778.2:c.1025C>T	XP_016865267.1:p.Pro342Leu
XR_001742215.1:n.1808C>T
XR_001742216.1:n.1827C>T
XR_427718.2:n.1913C>T
XR_948290.2:n.1679C>T
XR_948291.2:n.1907C>T
NM_003060.4:c.1553C>T MANE Select	NP_003051.1:p.Pro518Leu
NM_001308122.2:c.1625C>T	NP_001295051.1:p.Pro542Leu