Canonical Allele Identifier: CA360809712

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729397C>A (hg19) ; chr5:g.132393705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393705C>A , CM000667.2:g.132393705C>A	GRCh38
NC_000005.9:g.131729397C>A , CM000667.1:g.131729397C>A	GRCh37
NC_000005.8:g.131757296C>A	NCBI36
NG_008982.1:g.28997C>A
NG_008982.2:g.29002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-480C>A	ENSP00000388838.2:n.1292-480C>A
ENST00000435065.7:c.1552C>A	ENSP00000402760.2:p.Leu518Ile
ENST00000448810.6:c.*332C>A	ENSP00000401860.2:n.*332C>A
ENST00000685543.1:n.1621C>A
ENST00000686757.1:c.*644C>A	ENSP00000510721.1:n.*644C>A
ENST00000686868.1:n.472C>A
ENST00000687740.1:n.4165C>A
ENST00000688151.1:n.2790C>A
ENST00000689271.1:c.1327C>A	ENSP00000510797.1:p.Leu443Ile
ENST00000690900.1:c.*644C>A	ENSP00000510703.1:n.*644C>A
ENST00000692212.1:n.4620C>A
ENST00000692355.1:c.733C>A
ENST00000692413.1:c.1462C>A	ENSP00000509374.1:p.Leu488Ile
ENST00000692825.1:c.1548C>A	ENSP00000509447.1:n.1548C>A
ENST00000693308.1:c.1528C>A	ENSP00000509770.1:p.Leu510Ile
ENST00000693763.1:n.2640C>A
ENST00000245407.8:c.1480C>A MANE Select	ENSP00000245407.3:p.Leu494Ile
ENST00000245407.7:c.1480C>A	ENSP00000245407.3:p.Leu494Ile
ENST00000435065.6:c.1552C>A	ENSP00000402760.2:p.Leu518Ile
ENST00000447841.5:c.324C>A
ENST00000448810.5:c.742C>A
ENST00000461013.5:n.8902C>A
ENST00000475308.1:n.2158C>A
NM_001308122.1:c.1552C>A	NP_001295051.1:p.Leu518Ile
NM_003060.3:c.1480C>A	NP_003051.1:p.Leu494Ile
XM_011543590.1:c.862C>A	XP_011541892.1:p.Leu288Ile
XR_948290.1:n.1606C>A
XM_011543590.2:c.862C>A	XP_011541892.1:p.Leu288Ile
XM_017009778.2:c.952C>A	XP_016865267.1:p.Leu318Ile
XR_001742215.1:n.1735C>A
XR_001742216.1:n.1754C>A
XR_427718.2:n.1840C>A
XR_948290.2:n.1606C>A
XR_948291.2:n.1834C>A
NM_003060.4:c.1480C>A MANE Select	NP_003051.1:p.Leu494Ile
NM_001308122.2:c.1552C>A	NP_001295051.1:p.Leu518Ile