Canonical Allele Identifier: CA360809862

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729443T>C (hg19) ; chr5:g.132393751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393751T>C , CM000667.2:g.132393751T>C	GRCh38
NC_000005.9:g.131729443T>C , CM000667.1:g.131729443T>C	GRCh37
NC_000005.8:g.131757342T>C	NCBI36
NG_008982.1:g.29043T>C
NG_008982.2:g.29048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-434T>C	ENSP00000388838.2:n.1292-434T>C
ENST00000435065.7:c.1598T>C	ENSP00000402760.2:p.Leu533Pro
ENST00000448810.6:c.*378T>C	ENSP00000401860.2:n.*378T>C
ENST00000685543.1:n.1667T>C
ENST00000686757.1:c.*690T>C	ENSP00000510721.1:n.*690T>C
ENST00000686868.1:n.518T>C
ENST00000687740.1:n.4211T>C
ENST00000688151.1:n.2836T>C
ENST00000689271.1:c.1373T>C	ENSP00000510797.1:p.Leu458Pro
ENST00000690900.1:c.*690T>C	ENSP00000510703.1:n.*690T>C
ENST00000692212.1:n.4666T>C
ENST00000692355.1:c.779T>C
ENST00000692413.1:c.1508T>C	ENSP00000509374.1:p.Leu503Pro
ENST00000692825.1:c.1594T>C	ENSP00000509447.1:n.1594T>C
ENST00000693308.1:c.1574T>C	ENSP00000509770.1:p.Leu525Pro
ENST00000693763.1:n.2686T>C
ENST00000245407.8:c.1526T>C MANE Select	ENSP00000245407.3:p.Leu509Pro
ENST00000245407.7:c.1526T>C	ENSP00000245407.3:p.Leu509Pro
ENST00000435065.6:c.1598T>C	ENSP00000402760.2:p.Leu533Pro
ENST00000447841.5:c.370T>C
ENST00000448810.5:c.788T>C
ENST00000461013.5:n.8948T>C
ENST00000475308.1:n.2204T>C
NM_001308122.1:c.1598T>C	NP_001295051.1:p.Leu533Pro
NM_003060.3:c.1526T>C	NP_003051.1:p.Leu509Pro
XM_011543590.1:c.908T>C	XP_011541892.1:p.Leu303Pro
XR_948290.1:n.1652T>C
XM_011543590.2:c.908T>C	XP_011541892.1:p.Leu303Pro
XM_017009778.2:c.998T>C	XP_016865267.1:p.Leu333Pro
XR_001742215.1:n.1781T>C
XR_001742216.1:n.1800T>C
XR_427718.2:n.1886T>C
XR_948290.2:n.1652T>C
XR_948291.2:n.1880T>C
NM_003060.4:c.1526T>C MANE Select	NP_003051.1:p.Leu509Pro
NM_001308122.2:c.1598T>C	NP_001295051.1:p.Leu533Pro