Canonical Allele Identifier: CA360807818

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726572C>T (hg19) ; chr5:g.132390880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390880C>T , CM000667.2:g.132390880C>T	GRCh38
NC_000005.9:g.131726572C>T , CM000667.1:g.131726572C>T	GRCh37
NC_000005.8:g.131754471C>T	NCBI36
NG_008982.1:g.26172C>T
NG_008982.2:g.26177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1084C>T	ENSP00000388838.2:p.Leu362Phe
ENST00000435065.7:c.1315C>T	ENSP00000402760.2:p.Leu439Phe
ENST00000448810.6:c.*95C>T	ENSP00000401860.2:n.*95C>T
ENST00000685543.1:n.1384C>T
ENST00000686757.1:c.*407C>T	ENSP00000510721.1:n.*407C>T
ENST00000687740.1:n.3928C>T
ENST00000688151.1:n.2553C>T
ENST00000689271.1:c.1090C>T	ENSP00000510797.1:p.Leu364Phe
ENST00000690900.1:c.*407C>T	ENSP00000510703.1:n.*407C>T
ENST00000692212.1:n.2855C>T
ENST00000692355.1:c.496C>T
ENST00000692413.1:c.1225C>T	ENSP00000509374.1:p.Leu409Phe
ENST00000692825.1:c.1311C>T	ENSP00000509447.1:n.1311C>T
ENST00000693308.1:c.1291C>T	ENSP00000509770.1:p.Leu431Phe
ENST00000693763.1:n.2403C>T
ENST00000245407.8:c.1243C>T MANE Select	ENSP00000245407.3:p.Leu415Phe
ENST00000245407.7:c.1243C>T	ENSP00000245407.3:p.Leu415Phe
ENST00000435065.6:c.1315C>T	ENSP00000402760.2:p.Leu439Phe
ENST00000447841.5:c.112-1553C>T
ENST00000448810.5:c.505C>T
ENST00000461013.5:n.8665C>T
ENST00000475308.1:n.1921C>T
ENST00000479605.5:n.346C>T
NM_001308122.1:c.1315C>T	NP_001295051.1:p.Leu439Phe
NM_003060.3:c.1243C>T	NP_003051.1:p.Leu415Phe
XM_011543590.1:c.625C>T	XP_011541892.1:p.Leu209Phe
XR_427718.1:n.1603C>T
XR_948290.1:n.1394-1553C>T
XR_948291.1:n.1597C>T
XM_011543590.2:c.625C>T	XP_011541892.1:p.Leu209Phe
XM_017009778.2:c.715C>T	XP_016865267.1:p.Leu239Phe
XR_001742215.1:n.1498C>T
XR_001742216.1:n.1517C>T
XR_427718.2:n.1603C>T
XR_948290.2:n.1394-1553C>T
XR_948291.2:n.1597C>T
NM_003060.4:c.1243C>T MANE Select	NP_003051.1:p.Leu415Phe
NM_001308122.2:c.1315C>T	NP_001295051.1:p.Leu439Phe