Canonical Allele Identifier: CA446339731

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1966818
• ClinVar RCV Id: RCV002745622
• gnomAD v4: 5-132390855-C-T
• MyVariant Identifiers: chr5:g.131726547C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390855C>T , CM000667.2:g.132390855C>T	GRCh38
NC_000005.9:g.131726547C>T , CM000667.1:g.131726547C>T	GRCh37
NC_000005.8:g.131754446C>T	NCBI36
NG_008982.1:g.26147C>T
NG_008982.2:g.26152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1059C>T	ENSP00000388838.2:p.Ala353=
ENST00000435065.7:c.1290C>T	ENSP00000402760.2:p.Ala430=
ENST00000448810.6:c.*70C>T	ENSP00000401860.2:n.*70C>T
ENST00000685543.1:n.1359C>T
ENST00000686757.1:c.*382C>T	ENSP00000510721.1:n.*382C>T
ENST00000687740.1:n.3903C>T
ENST00000688151.1:n.2528C>T
ENST00000689271.1:c.1065C>T	ENSP00000510797.1:p.Ala355=
ENST00000690900.1:c.*382C>T	ENSP00000510703.1:n.*382C>T
ENST00000692212.1:n.2830C>T
ENST00000692355.1:c.471C>T
ENST00000692413.1:c.1200C>T	ENSP00000509374.1:p.Ala400=
ENST00000692825.1:c.1286C>T	ENSP00000509447.1:n.1286C>T
ENST00000693308.1:c.1266C>T	ENSP00000509770.1:p.Ala422=
ENST00000693763.1:n.2378C>T
ENST00000245407.8:c.1218C>T MANE Select	ENSP00000245407.3:p.Ala406=
ENST00000245407.7:c.1218C>T	ENSP00000245407.3:p.Ala406=
ENST00000435065.6:c.1290C>T	ENSP00000402760.2:p.Ala430=
ENST00000447841.5:c.112-1578C>T
ENST00000448810.5:c.480C>T
ENST00000461013.5:n.8640C>T
ENST00000475308.1:n.1896C>T
ENST00000479605.5:n.321C>T
NM_001308122.1:c.1290C>T	NP_001295051.1:p.Ala430=
NM_003060.3:c.1218C>T	NP_003051.1:p.Ala406=
XM_011543590.1:c.600C>T	XP_011541892.1:p.Ala200=
XR_427718.1:n.1578C>T
XR_948290.1:n.1394-1578C>T
XR_948291.1:n.1572C>T
XM_011543590.2:c.600C>T	XP_011541892.1:p.Ala200=
XM_017009778.2:c.690C>T	XP_016865267.1:p.Ala230=
XR_001742215.1:n.1473C>T
XR_001742216.1:n.1492C>T
XR_427718.2:n.1578C>T
XR_948290.2:n.1394-1578C>T
XR_948291.2:n.1572C>T
NM_003060.4:c.1218C>T MANE Select	NP_003051.1:p.Ala406=
NM_001308122.2:c.1290C>T	NP_001295051.1:p.Ala430=