Canonical Allele Identifier: CA1081645083

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1752779254
• gnomAD v3: 5-132393632-C-T
• gnomAD v4: 5-132393632-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393632C>T , CM000667.2:g.132393632C>T	GRCh38
NC_000005.9:g.131729324C>T , CM000667.1:g.131729324C>T	GRCh37
NC_000005.8:g.131757223C>T	NCBI36
NG_008982.1:g.28924C>T
NG_008982.2:g.28929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-553C>T	ENSP00000388838.2:n.1292-553C>T
ENST00000435065.7:c.1523-44C>T	ENSP00000402760.2:n.1523-44C>T
ENST00000448810.6:c.*303-44C>T	ENSP00000401860.2:n.*303-44C>T
ENST00000685543.1:n.1592-44C>T
ENST00000686757.1:c.*615-44C>T	ENSP00000510721.1:n.*615-44C>T
ENST00000686868.1:n.399C>T
ENST00000687740.1:n.4136-44C>T
ENST00000688151.1:n.2761-44C>T
ENST00000689271.1:c.1298-44C>T	ENSP00000510797.1:n.1298-44C>T
ENST00000690900.1:c.*615-44C>T	ENSP00000510703.1:n.*615-44C>T
ENST00000692212.1:n.4591-44C>T
ENST00000692355.1:c.704-44C>T
ENST00000692413.1:c.1433-44C>T	ENSP00000509374.1:n.1433-44C>T
ENST00000692825.1:c.1519-44C>T	ENSP00000509447.1:n.1519-44C>T
ENST00000693308.1:c.1499-44C>T	ENSP00000509770.1:n.1499-44C>T
ENST00000693763.1:n.2611-44C>T
ENST00000245407.8:c.1451-44C>T MANE Select	ENSP00000245407.3:n.1451-44C>T
ENST00000245407.7:c.1451-44C>T	ENSP00000245407.3:n.1451-44C>T
ENST00000435065.6:c.1523-44C>T	ENSP00000402760.2:n.1523-44C>T
ENST00000447841.5:c.295-44C>T
ENST00000448810.5:c.713-44C>T
ENST00000461013.5:n.8873-44C>T
ENST00000475308.1:n.2129-44C>T
ENST00000479605.5:n.554-44C>T
NM_001308122.1:c.1523-44C>T	NP_001295051.1:n.1523-44C>T
NM_003060.3:c.1451-44C>T	NP_003051.1:n.1451-44C>T
XM_011543590.1:c.833-44C>T	XP_011541892.1:n.833-44C>T
XR_948290.1:n.1577-44C>T
XM_011543590.2:c.833-44C>T	XP_011541892.1:n.833-44C>T
XM_017009778.2:c.923-44C>T	XP_016865267.1:n.923-44C>T
XR_001742215.1:n.1706-44C>T
XR_001742216.1:n.1725-44C>T
XR_427718.2:n.1811-44C>T
XR_948290.2:n.1577-44C>T
XR_948291.2:n.1805-44C>T
NM_003060.4:c.1451-44C>T MANE Select	NP_003051.1:n.1451-44C>T
NM_001308122.2:c.1523-44C>T	NP_001295051.1:n.1523-44C>T