Canonical Allele Identifier: CA127211971

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1200119
• ClinVar RCV Id: RCV001565029
• dbSNP Id: rs78200702
• gnomAD v2: 5-131726090-T-G
• gnomAD v3: 5-132390398-T-G
• gnomAD v4: 5-132390398-T-G
• MyVariant Identifiers: chr5:g.131726090T>G (hg19) ; chr5:g.132390398T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390398T>G , CM000667.2:g.132390398T>G	GRCh38
NC_000005.9:g.131726090T>G , CM000667.1:g.131726090T>G	GRCh37
NC_000005.8:g.131753989T>G	NCBI36
NG_008982.1:g.25690T>G
NG_008982.2:g.25695T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.894-292T>G	ENSP00000388838.2:n.894-292T>G
ENST00000435065.7:c.1125-292T>G	ENSP00000402760.2:n.1125-292T>G
ENST00000448810.6:c.1053-378T>G	ENSP00000401860.2:n.1053-378T>G
ENST00000685543.1:n.1194-292T>G
ENST00000686757.1:c.*217-292T>G	ENSP00000510721.1:n.*217-292T>G
ENST00000687740.1:n.3738-292T>G
ENST00000688151.1:n.2363-292T>G
ENST00000689271.1:c.900-292T>G	ENSP00000510797.1:n.900-292T>G
ENST00000690900.1:c.*217-292T>G	ENSP00000510703.1:n.*217-292T>G
ENST00000692212.1:n.2373T>G
ENST00000692355.1:c.306-292T>G
ENST00000692413.1:c.1035-292T>G	ENSP00000509374.1:n.1035-292T>G
ENST00000692825.1:c.1121-292T>G	ENSP00000509447.1:n.1121-292T>G
ENST00000693308.1:c.1101-292T>G	ENSP00000509770.1:n.1101-292T>G
ENST00000693763.1:n.2213-292T>G
ENST00000245407.8:c.1053-292T>G MANE Select	ENSP00000245407.3:n.1053-292T>G
ENST00000245407.7:c.1053-292T>G	ENSP00000245407.3:n.1053-292T>G
ENST00000435065.6:c.1125-292T>G	ENSP00000402760.2:n.1125-292T>G
ENST00000447841.5:c.111+1377T>G
ENST00000448810.5:c.401-378T>G
ENST00000461013.5:n.8475-292T>G
ENST00000475308.1:n.1439T>G
ENST00000479605.5:n.156-292T>G
NM_001308122.1:c.1125-292T>G	NP_001295051.1:n.1125-292T>G
NM_003060.3:c.1053-292T>G	NP_003051.1:n.1053-292T>G
XM_011543590.1:c.435-292T>G	XP_011541892.1:n.435-292T>G
XR_427718.1:n.1413-292T>G
XR_948290.1:n.1393+1377T>G
XR_948291.1:n.1407-292T>G
XM_011543590.2:c.435-292T>G	XP_011541892.1:n.435-292T>G
XM_017009778.2:c.525-292T>G	XP_016865267.1:n.525-292T>G
XR_001742215.1:n.1394-378T>G
XR_001742216.1:n.1413-378T>G
XR_427718.2:n.1413-292T>G
XR_948290.2:n.1393+1377T>G
XR_948291.2:n.1407-292T>G
NM_003060.4:c.1053-292T>G MANE Select	NP_003051.1:n.1053-292T>G
NM_001308122.2:c.1125-292T>G	NP_001295051.1:n.1125-292T>G