Canonical Allele Identifier: CA360807521

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726430C>G (hg19) ; chr5:g.132390738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390738C>G , CM000667.2:g.132390738C>G	GRCh38
NC_000005.9:g.131726430C>G , CM000667.1:g.131726430C>G	GRCh37
NC_000005.8:g.131754329C>G	NCBI36
NG_008982.1:g.26030C>G
NG_008982.2:g.26035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.942C>G	ENSP00000388838.2:p.Asn314Lys
ENST00000435065.7:c.1173C>G	ENSP00000402760.2:p.Asn391Lys
ENST00000448810.6:c.1053-38C>G	ENSP00000401860.2:n.1053-38C>G
ENST00000685543.1:n.1242C>G
ENST00000686757.1:c.*265C>G	ENSP00000510721.1:n.*265C>G
ENST00000687740.1:n.3786C>G
ENST00000688151.1:n.2411C>G
ENST00000689271.1:c.948C>G	ENSP00000510797.1:p.Asn316Lys
ENST00000690900.1:c.*265C>G	ENSP00000510703.1:n.*265C>G
ENST00000692212.1:n.2713C>G
ENST00000692355.1:c.354C>G
ENST00000692413.1:c.1083C>G	ENSP00000509374.1:p.Asn361Lys
ENST00000692825.1:c.1169C>G	ENSP00000509447.1:n.1169C>G
ENST00000693308.1:c.1149C>G	ENSP00000509770.1:p.Asn383Lys
ENST00000693763.1:n.2261C>G
ENST00000245407.8:c.1101C>G MANE Select	ENSP00000245407.3:p.Asn367Lys
ENST00000245407.7:c.1101C>G	ENSP00000245407.3:p.Asn367Lys
ENST00000435065.6:c.1173C>G	ENSP00000402760.2:p.Asn391Lys
ENST00000447841.5:c.112-1695C>G
ENST00000448810.5:c.401-38C>G
ENST00000461013.5:n.8523C>G
ENST00000475308.1:n.1779C>G
ENST00000479605.5:n.204C>G
NM_001308122.1:c.1173C>G	NP_001295051.1:p.Asn391Lys
NM_003060.3:c.1101C>G	NP_003051.1:p.Asn367Lys
XM_011543590.1:c.483C>G	XP_011541892.1:p.Asn161Lys
XR_427718.1:n.1461C>G
XR_948290.1:n.1394-1695C>G
XR_948291.1:n.1455C>G
XM_011543590.2:c.483C>G	XP_011541892.1:p.Asn161Lys
XM_017009778.2:c.573C>G	XP_016865267.1:p.Asn191Lys
XR_001742215.1:n.1394-38C>G
XR_001742216.1:n.1413-38C>G
XR_427718.2:n.1461C>G
XR_948290.2:n.1394-1695C>G
XR_948291.2:n.1455C>G
NM_003060.4:c.1101C>G MANE Select	NP_003051.1:p.Asn367Lys
NM_001308122.2:c.1173C>G	NP_001295051.1:p.Asn391Lys