Canonical Allele Identifier: CA3404190

Gene: SLC22A5

Linked Data

• dbSNP Id: rs746506858
• ExAC: 5:131729459 T / A
• gnomAD v2: 5-131729459-T-A
• gnomAD v4: 5-132393767-T-A
• MyVariant Identifiers: chr5:g.131729459T>A (hg19) ; chr5:g.132393767T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393767T>A , CM000667.2:g.132393767T>A	GRCh38
NC_000005.9:g.131729459T>A , CM000667.1:g.131729459T>A	GRCh37
NC_000005.8:g.131757358T>A	NCBI36
NG_008982.1:g.29059T>A
NG_008982.2:g.29064T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-418T>A	ENSP00000388838.2:n.1292-418T>A
ENST00000435065.7:c.1614T>A	ENSP00000402760.2:p.Gly538=
ENST00000448810.6:c.*394T>A	ENSP00000401860.2:n.*394T>A
ENST00000685543.1:n.1683T>A
ENST00000686757.1:c.*706T>A	ENSP00000510721.1:n.*706T>A
ENST00000686868.1:n.534T>A
ENST00000687740.1:n.4227T>A
ENST00000688151.1:n.2852T>A
ENST00000689271.1:c.1389T>A	ENSP00000510797.1:p.Gly463=
ENST00000690900.1:c.*706T>A	ENSP00000510703.1:n.*706T>A
ENST00000692212.1:n.4682T>A
ENST00000692355.1:c.795T>A
ENST00000692413.1:c.1524T>A	ENSP00000509374.1:p.Gly508=
ENST00000692825.1:c.1610T>A	ENSP00000509447.1:n.1610T>A
ENST00000693308.1:c.1590T>A	ENSP00000509770.1:p.Gly530=
ENST00000693763.1:n.2702T>A
ENST00000245407.8:c.1542T>A MANE Select	ENSP00000245407.3:p.Gly514=
ENST00000245407.7:c.1542T>A	ENSP00000245407.3:p.Gly514=
ENST00000435065.6:c.1614T>A	ENSP00000402760.2:p.Gly538=
ENST00000447841.5:c.386T>A
ENST00000448810.5:c.804T>A
ENST00000461013.5:n.8964T>A
ENST00000475308.1:n.2220T>A
NM_001308122.1:c.1614T>A	NP_001295051.1:p.Gly538=
NM_003060.3:c.1542T>A	NP_003051.1:p.Gly514=
XM_011543590.1:c.924T>A	XP_011541892.1:p.Gly308=
XR_948290.1:n.1668T>A
XM_011543590.2:c.924T>A	XP_011541892.1:p.Gly308=
XM_017009778.2:c.1014T>A	XP_016865267.1:p.Gly338=
XR_001742215.1:n.1797T>A
XR_001742216.1:n.1816T>A
XR_427718.2:n.1902T>A
XR_948290.2:n.1668T>A
XR_948291.2:n.1896T>A
NM_003060.4:c.1542T>A MANE Select	NP_003051.1:p.Gly514=
NM_001308122.2:c.1614T>A	NP_001295051.1:p.Gly538=