Canonical Allele Identifier: CA360807634

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726480T>G (hg19) ; chr5:g.132390788T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390788T>G , CM000667.2:g.132390788T>G	GRCh38
NC_000005.9:g.131726480T>G , CM000667.1:g.131726480T>G	GRCh37
NC_000005.8:g.131754379T>G	NCBI36
NG_008982.1:g.26080T>G
NG_008982.2:g.26085T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.992T>G	ENSP00000388838.2:p.Val331Gly
ENST00000435065.7:c.1223T>G	ENSP00000402760.2:p.Val408Gly
ENST00000448810.6:c.*3T>G	ENSP00000401860.2:n.*3T>G
ENST00000685543.1:n.1292T>G
ENST00000686757.1:c.*315T>G	ENSP00000510721.1:n.*315T>G
ENST00000687740.1:n.3836T>G
ENST00000688151.1:n.2461T>G
ENST00000689271.1:c.998T>G	ENSP00000510797.1:p.Val333Gly
ENST00000690900.1:c.*315T>G	ENSP00000510703.1:n.*315T>G
ENST00000692212.1:n.2763T>G
ENST00000692355.1:c.404T>G
ENST00000692413.1:c.1133T>G	ENSP00000509374.1:p.Val378Gly
ENST00000692825.1:c.1219T>G	ENSP00000509447.1:n.1219T>G
ENST00000693308.1:c.1199T>G	ENSP00000509770.1:p.Val400Gly
ENST00000693763.1:n.2311T>G
ENST00000245407.8:c.1151T>G MANE Select	ENSP00000245407.3:p.Val384Gly
ENST00000245407.7:c.1151T>G	ENSP00000245407.3:p.Val384Gly
ENST00000435065.6:c.1223T>G	ENSP00000402760.2:p.Val408Gly
ENST00000447841.5:c.112-1645T>G
ENST00000448810.5:c.413T>G
ENST00000461013.5:n.8573T>G
ENST00000475308.1:n.1829T>G
ENST00000479605.5:n.254T>G
NM_001308122.1:c.1223T>G	NP_001295051.1:p.Val408Gly
NM_003060.3:c.1151T>G	NP_003051.1:p.Val384Gly
XM_011543590.1:c.533T>G	XP_011541892.1:p.Val178Gly
XR_427718.1:n.1511T>G
XR_948290.1:n.1394-1645T>G
XR_948291.1:n.1505T>G
XM_011543590.2:c.533T>G	XP_011541892.1:p.Val178Gly
XM_017009778.2:c.623T>G	XP_016865267.1:p.Val208Gly
XR_001742215.1:n.1406T>G
XR_001742216.1:n.1425T>G
XR_427718.2:n.1511T>G
XR_948290.2:n.1394-1645T>G
XR_948291.2:n.1505T>G
NM_003060.4:c.1151T>G MANE Select	NP_003051.1:p.Val384Gly
NM_001308122.2:c.1223T>G	NP_001295051.1:p.Val408Gly