Canonical Allele Identifier: CA360802586

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1751842679
• gnomAD v4: 5-132370175-C-A
• MyVariant Identifiers: chr5:g.131705867C>A (hg19) ; chr5:g.132370175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370175C>A , CM000667.2:g.132370175C>A	GRCh38
NC_000005.9:g.131705867C>A , CM000667.1:g.131705867C>A	GRCh37
NC_000005.8:g.131733766C>A	NCBI36
NG_008982.1:g.5467C>A
NG_008982.2:g.5472C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.203C>A	ENSP00000388838.2:p.Pro68Gln
ENST00000435065.7:c.203C>A	ENSP00000402760.2:p.Pro68Gln
ENST00000448810.6:c.203C>A	ENSP00000401860.2:p.Pro68Gln
ENST00000686757.1:c.203C>A	ENSP00000510721.1:p.Pro68Gln
ENST00000687740.1:n.337C>A
ENST00000689271.1:c.203C>A	ENSP00000510797.1:p.Pro68Gln
ENST00000690900.1:c.203C>A	ENSP00000510703.1:p.Pro68Gln
ENST00000692413.1:c.203C>A	ENSP00000509374.1:p.Pro68Gln
ENST00000692825.1:c.203C>A	ENSP00000509447.1:p.Pro68Gln
ENST00000693308.1:c.203C>A	ENSP00000509770.1:p.Pro68Gln
ENST00000693763.1:n.337C>A
ENST00000245407.8:c.203C>A MANE Select	ENSP00000245407.3:p.Pro68Gln
ENST00000245407.7:c.203C>A	ENSP00000245407.3:p.Pro68Gln
ENST00000435065.6:c.203C>A	ENSP00000402760.2:p.Pro68Gln
ENST00000437841.6:c.203C>A	ENSP00000400553.1:p.Pro68Gln
NM_001308122.1:c.203C>A	NP_001295051.1:p.Pro68Gln
NM_003060.3:c.203C>A	NP_003051.1:p.Pro68Gln
XR_427718.1:n.472C>A
XR_948290.1:n.472C>A
XR_948291.1:n.472C>A
XM_011543590.2:c.-429C>A	XP_011541892.1:n.-429C>A
XR_001742215.1:n.472C>A
XR_001742216.1:n.472C>A
XR_427718.2:n.472C>A
XR_948290.2:n.472C>A
XR_948291.2:n.472C>A
NM_003060.4:c.203C>A MANE Select	NP_003051.1:p.Pro68Gln
NM_001308122.2:c.203C>A	NP_001295051.1:p.Pro68Gln