Canonical Allele Identifier: CA360807692

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390818-T-A
• MyVariant Identifiers: chr5:g.131726510T>A (hg19) ; chr5:g.132390818T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390818T>A , CM000667.2:g.132390818T>A	GRCh38
NC_000005.9:g.131726510T>A , CM000667.1:g.131726510T>A	GRCh37
NC_000005.8:g.131754409T>A	NCBI36
NG_008982.1:g.26110T>A
NG_008982.2:g.26115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1022T>A	ENSP00000388838.2:p.Leu341Gln
ENST00000435065.7:c.1253T>A	ENSP00000402760.2:p.Leu418Gln
ENST00000448810.6:c.*33T>A	ENSP00000401860.2:n.*33T>A
ENST00000685543.1:n.1322T>A
ENST00000686757.1:c.*345T>A	ENSP00000510721.1:n.*345T>A
ENST00000687740.1:n.3866T>A
ENST00000688151.1:n.2491T>A
ENST00000689271.1:c.1028T>A	ENSP00000510797.1:p.Leu343Gln
ENST00000690900.1:c.*345T>A	ENSP00000510703.1:n.*345T>A
ENST00000692212.1:n.2793T>A
ENST00000692355.1:c.434T>A
ENST00000692413.1:c.1163T>A	ENSP00000509374.1:p.Leu388Gln
ENST00000692825.1:c.1249T>A	ENSP00000509447.1:n.1249T>A
ENST00000693308.1:c.1229T>A	ENSP00000509770.1:p.Leu410Gln
ENST00000693763.1:n.2341T>A
ENST00000245407.8:c.1181T>A MANE Select	ENSP00000245407.3:p.Leu394Gln
ENST00000245407.7:c.1181T>A	ENSP00000245407.3:p.Leu394Gln
ENST00000435065.6:c.1253T>A	ENSP00000402760.2:p.Leu418Gln
ENST00000447841.5:c.112-1615T>A
ENST00000448810.5:c.443T>A
ENST00000461013.5:n.8603T>A
ENST00000475308.1:n.1859T>A
ENST00000479605.5:n.284T>A
NM_001308122.1:c.1253T>A	NP_001295051.1:p.Leu418Gln
NM_003060.3:c.1181T>A	NP_003051.1:p.Leu394Gln
XM_011543590.1:c.563T>A	XP_011541892.1:p.Leu188Gln
XR_427718.1:n.1541T>A
XR_948290.1:n.1394-1615T>A
XR_948291.1:n.1535T>A
XM_011543590.2:c.563T>A	XP_011541892.1:p.Leu188Gln
XM_017009778.2:c.653T>A	XP_016865267.1:p.Leu218Gln
XR_001742215.1:n.1436T>A
XR_001742216.1:n.1455T>A
XR_427718.2:n.1541T>A
XR_948290.2:n.1394-1615T>A
XR_948291.2:n.1535T>A
NM_003060.4:c.1181T>A MANE Select	NP_003051.1:p.Leu394Gln
NM_001308122.2:c.1253T>A	NP_001295051.1:p.Leu418Gln