Canonical Allele Identifier: CA127213029

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2100788
• ClinVar RCV Id: RCV003033582
• dbSNP Id: rs905909497
• gnomAD v2: 5-131729350-C-G
• gnomAD v3: 5-132393658-C-G
• gnomAD v4: 5-132393658-C-G
• MyVariant Identifiers: chr5:g.131729350C>G (hg19) ; chr5:g.132393658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393658C>G , CM000667.2:g.132393658C>G	GRCh38
NC_000005.9:g.131729350C>G , CM000667.1:g.131729350C>G	GRCh37
NC_000005.8:g.131757249C>G	NCBI36
NG_008982.1:g.28950C>G
NG_008982.2:g.28955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-527C>G	ENSP00000388838.2:n.1292-527C>G
ENST00000435065.7:c.1523-18C>G	ENSP00000402760.2:n.1523-18C>G
ENST00000448810.6:c.*303-18C>G	ENSP00000401860.2:n.*303-18C>G
ENST00000685543.1:n.1592-18C>G
ENST00000686757.1:c.*615-18C>G	ENSP00000510721.1:n.*615-18C>G
ENST00000686868.1:n.425C>G
ENST00000687740.1:n.4136-18C>G
ENST00000688151.1:n.2761-18C>G
ENST00000689271.1:c.1298-18C>G	ENSP00000510797.1:n.1298-18C>G
ENST00000690900.1:c.*615-18C>G	ENSP00000510703.1:n.*615-18C>G
ENST00000692212.1:n.4591-18C>G
ENST00000692355.1:c.704-18C>G
ENST00000692413.1:c.1433-18C>G	ENSP00000509374.1:n.1433-18C>G
ENST00000692825.1:c.1519-18C>G	ENSP00000509447.1:n.1519-18C>G
ENST00000693308.1:c.1499-18C>G	ENSP00000509770.1:n.1499-18C>G
ENST00000693763.1:n.2611-18C>G
ENST00000245407.8:c.1451-18C>G MANE Select	ENSP00000245407.3:n.1451-18C>G
ENST00000245407.7:c.1451-18C>G	ENSP00000245407.3:n.1451-18C>G
ENST00000435065.6:c.1523-18C>G	ENSP00000402760.2:n.1523-18C>G
ENST00000447841.5:c.295-18C>G
ENST00000448810.5:c.713-18C>G
ENST00000461013.5:n.8873-18C>G
ENST00000475308.1:n.2129-18C>G
ENST00000479605.5:n.554-18C>G
NM_001308122.1:c.1523-18C>G	NP_001295051.1:n.1523-18C>G
NM_003060.3:c.1451-18C>G	NP_003051.1:n.1451-18C>G
XM_011543590.1:c.833-18C>G	XP_011541892.1:n.833-18C>G
XR_948290.1:n.1577-18C>G
XM_011543590.2:c.833-18C>G	XP_011541892.1:n.833-18C>G
XM_017009778.2:c.923-18C>G	XP_016865267.1:n.923-18C>G
XR_001742215.1:n.1706-18C>G
XR_001742216.1:n.1725-18C>G
XR_427718.2:n.1811-18C>G
XR_948290.2:n.1577-18C>G
XR_948291.2:n.1805-18C>G
NM_003060.4:c.1451-18C>G MANE Select	NP_003051.1:n.1451-18C>G
NM_001308122.2:c.1523-18C>G	NP_001295051.1:n.1523-18C>G