Canonical Allele Identifier: CA360809969

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729473A>T (hg19) ; chr5:g.132393781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393781A>T , CM000667.2:g.132393781A>T	GRCh38
NC_000005.9:g.131729473A>T , CM000667.1:g.131729473A>T	GRCh37
NC_000005.8:g.131757372A>T	NCBI36
NG_008982.1:g.29073A>T
NG_008982.2:g.29078A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-404A>T	ENSP00000388838.2:n.1292-404A>T
ENST00000435065.7:c.1628A>T	ENSP00000402760.2:p.Asp543Val
ENST00000448810.6:c.*408A>T	ENSP00000401860.2:n.*408A>T
ENST00000685543.1:n.1697A>T
ENST00000686757.1:c.*720A>T	ENSP00000510721.1:n.*720A>T
ENST00000686868.1:n.548A>T
ENST00000687740.1:n.4241A>T
ENST00000688151.1:n.2866A>T
ENST00000689271.1:c.1403A>T	ENSP00000510797.1:p.Asp468Val
ENST00000690900.1:c.*720A>T	ENSP00000510703.1:n.*720A>T
ENST00000692212.1:n.4696A>T
ENST00000692355.1:c.809A>T
ENST00000692413.1:c.1538A>T	ENSP00000509374.1:p.Asp513Val
ENST00000692825.1:c.1624A>T	ENSP00000509447.1:n.1624A>T
ENST00000693308.1:c.1604A>T	ENSP00000509770.1:p.Asp535Val
ENST00000693763.1:n.2716A>T
ENST00000245407.8:c.1556A>T MANE Select	ENSP00000245407.3:p.Asp519Val
ENST00000245407.7:c.1556A>T	ENSP00000245407.3:p.Asp519Val
ENST00000435065.6:c.1628A>T	ENSP00000402760.2:p.Asp543Val
ENST00000447841.5:c.400A>T
ENST00000448810.5:c.818A>T
ENST00000461013.5:n.8978A>T
ENST00000475308.1:n.2234A>T
NM_001308122.1:c.1628A>T	NP_001295051.1:p.Asp543Val
NM_003060.3:c.1556A>T	NP_003051.1:p.Asp519Val
XM_011543590.1:c.938A>T	XP_011541892.1:p.Asp313Val
XR_948290.1:n.1682A>T
XM_011543590.2:c.938A>T	XP_011541892.1:p.Asp313Val
XM_017009778.2:c.1028A>T	XP_016865267.1:p.Asp343Val
XR_001742215.1:n.1811A>T
XR_001742216.1:n.1830A>T
XR_427718.2:n.1916A>T
XR_948290.2:n.1682A>T
XR_948291.2:n.1910A>T
NM_003060.4:c.1556A>T MANE Select	NP_003051.1:p.Asp519Val
NM_001308122.2:c.1628A>T	NP_001295051.1:p.Asp543Val