Canonical Allele Identifier: CA360810057

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729497T>A (hg19) ; chr5:g.132393805T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393805T>A , CM000667.2:g.132393805T>A	GRCh38
NC_000005.9:g.131729497T>A , CM000667.1:g.131729497T>A	GRCh37
NC_000005.8:g.131757396T>A	NCBI36
NG_008982.1:g.29097T>A
NG_008982.2:g.29102T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-380T>A	ENSP00000388838.2:n.1292-380T>A
ENST00000435065.7:c.1652T>A	ENSP00000402760.2:p.Val551Asp
ENST00000448810.6:c.*432T>A	ENSP00000401860.2:n.*432T>A
ENST00000685543.1:n.1721T>A
ENST00000686757.1:c.*744T>A	ENSP00000510721.1:n.*744T>A
ENST00000686868.1:n.572T>A
ENST00000687740.1:n.4265T>A
ENST00000688151.1:n.2890T>A
ENST00000689271.1:c.1427T>A	ENSP00000510797.1:p.Val476Asp
ENST00000690900.1:c.*744T>A	ENSP00000510703.1:n.*744T>A
ENST00000692212.1:n.4720T>A
ENST00000692355.1:c.833T>A
ENST00000692413.1:c.1562T>A	ENSP00000509374.1:p.Val521Asp
ENST00000692825.1:c.1648T>A	ENSP00000509447.1:n.1648T>A
ENST00000693308.1:c.1628T>A	ENSP00000509770.1:p.Val543Asp
ENST00000693763.1:n.2740T>A
ENST00000245407.8:c.1580T>A MANE Select	ENSP00000245407.3:p.Val527Asp
ENST00000245407.7:c.1580T>A	ENSP00000245407.3:p.Val527Asp
ENST00000435065.6:c.1652T>A	ENSP00000402760.2:p.Val551Asp
ENST00000447841.5:c.424T>A
ENST00000448810.5:c.842T>A
ENST00000461013.5:n.9002T>A
ENST00000475308.1:n.2258T>A
NM_001308122.1:c.1652T>A	NP_001295051.1:p.Val551Asp
NM_003060.3:c.1580T>A	NP_003051.1:p.Val527Asp
XM_011543590.1:c.962T>A	XP_011541892.1:p.Val321Asp
XR_948290.1:n.1706T>A
XM_011543590.2:c.962T>A	XP_011541892.1:p.Val321Asp
XM_017009778.2:c.1052T>A	XP_016865267.1:p.Val351Asp
XR_001742215.1:n.1835T>A
XR_001742216.1:n.1854T>A
XR_427718.2:n.1940T>A
XR_948290.2:n.1706T>A
XR_948291.2:n.1934T>A
NM_003060.4:c.1580T>A MANE Select	NP_003051.1:p.Val527Asp
NM_001308122.2:c.1652T>A	NP_001295051.1:p.Val551Asp