Canonical Allele Identifier: CA360809979

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729476C>A (hg19) ; chr5:g.132393784C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393784C>A , CM000667.2:g.132393784C>A	GRCh38
NC_000005.9:g.131729476C>A , CM000667.1:g.131729476C>A	GRCh37
NC_000005.8:g.131757375C>A	NCBI36
NG_008982.1:g.29076C>A
NG_008982.2:g.29081C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-401C>A	ENSP00000388838.2:n.1292-401C>A
ENST00000435065.7:c.1631C>A	ENSP00000402760.2:p.Thr544Asn
ENST00000448810.6:c.*411C>A	ENSP00000401860.2:n.*411C>A
ENST00000685543.1:n.1700C>A
ENST00000686757.1:c.*723C>A	ENSP00000510721.1:n.*723C>A
ENST00000686868.1:n.551C>A
ENST00000687740.1:n.4244C>A
ENST00000688151.1:n.2869C>A
ENST00000689271.1:c.1406C>A	ENSP00000510797.1:p.Thr469Asn
ENST00000690900.1:c.*723C>A	ENSP00000510703.1:n.*723C>A
ENST00000692212.1:n.4699C>A
ENST00000692355.1:c.812C>A
ENST00000692413.1:c.1541C>A	ENSP00000509374.1:p.Thr514Asn
ENST00000692825.1:c.1627C>A	ENSP00000509447.1:n.1627C>A
ENST00000693308.1:c.1607C>A	ENSP00000509770.1:p.Thr536Asn
ENST00000693763.1:n.2719C>A
ENST00000245407.8:c.1559C>A MANE Select	ENSP00000245407.3:p.Thr520Asn
ENST00000245407.7:c.1559C>A	ENSP00000245407.3:p.Thr520Asn
ENST00000435065.6:c.1631C>A	ENSP00000402760.2:p.Thr544Asn
ENST00000447841.5:c.403C>A
ENST00000448810.5:c.821C>A
ENST00000461013.5:n.8981C>A
ENST00000475308.1:n.2237C>A
NM_001308122.1:c.1631C>A	NP_001295051.1:p.Thr544Asn
NM_003060.3:c.1559C>A	NP_003051.1:p.Thr520Asn
XM_011543590.1:c.941C>A	XP_011541892.1:p.Thr314Asn
XR_948290.1:n.1685C>A
XM_011543590.2:c.941C>A	XP_011541892.1:p.Thr314Asn
XM_017009778.2:c.1031C>A	XP_016865267.1:p.Thr344Asn
XR_001742215.1:n.1814C>A
XR_001742216.1:n.1833C>A
XR_427718.2:n.1919C>A
XR_948290.2:n.1685C>A
XR_948291.2:n.1913C>A
NM_003060.4:c.1559C>A MANE Select	NP_003051.1:p.Thr520Asn
NM_001308122.2:c.1631C>A	NP_001295051.1:p.Thr544Asn