Canonical Allele Identifier: CA360809993

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729480T>G (hg19) ; chr5:g.132393788T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393788T>G , CM000667.2:g.132393788T>G	GRCh38
NC_000005.9:g.131729480T>G , CM000667.1:g.131729480T>G	GRCh37
NC_000005.8:g.131757379T>G	NCBI36
NG_008982.1:g.29080T>G
NG_008982.2:g.29085T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-397T>G	ENSP00000388838.2:n.1292-397T>G
ENST00000435065.7:c.1635T>G	ENSP00000402760.2:p.Ile545Met
ENST00000448810.6:c.*415T>G	ENSP00000401860.2:n.*415T>G
ENST00000685543.1:n.1704T>G
ENST00000686757.1:c.*727T>G	ENSP00000510721.1:n.*727T>G
ENST00000686868.1:n.555T>G
ENST00000687740.1:n.4248T>G
ENST00000688151.1:n.2873T>G
ENST00000689271.1:c.1410T>G	ENSP00000510797.1:p.Ile470Met
ENST00000690900.1:c.*727T>G	ENSP00000510703.1:n.*727T>G
ENST00000692212.1:n.4703T>G
ENST00000692355.1:c.816T>G
ENST00000692413.1:c.1545T>G	ENSP00000509374.1:p.Ile515Met
ENST00000692825.1:c.1631T>G	ENSP00000509447.1:n.1631T>G
ENST00000693308.1:c.1611T>G	ENSP00000509770.1:p.Ile537Met
ENST00000693763.1:n.2723T>G
ENST00000245407.8:c.1563T>G MANE Select	ENSP00000245407.3:p.Ile521Met
ENST00000245407.7:c.1563T>G	ENSP00000245407.3:p.Ile521Met
ENST00000435065.6:c.1635T>G	ENSP00000402760.2:p.Ile545Met
ENST00000447841.5:c.407T>G
ENST00000448810.5:c.825T>G
ENST00000461013.5:n.8985T>G
ENST00000475308.1:n.2241T>G
NM_001308122.1:c.1635T>G	NP_001295051.1:p.Ile545Met
NM_003060.3:c.1563T>G	NP_003051.1:p.Ile521Met
XM_011543590.1:c.945T>G	XP_011541892.1:p.Ile315Met
XR_948290.1:n.1689T>G
XM_011543590.2:c.945T>G	XP_011541892.1:p.Ile315Met
XM_017009778.2:c.1035T>G	XP_016865267.1:p.Ile345Met
XR_001742215.1:n.1818T>G
XR_001742216.1:n.1837T>G
XR_427718.2:n.1923T>G
XR_948290.2:n.1689T>G
XR_948291.2:n.1917T>G
NM_003060.4:c.1563T>G MANE Select	NP_003051.1:p.Ile521Met
NM_001308122.2:c.1635T>G	NP_001295051.1:p.Ile545Met