Canonical Allele Identifier: CA360807517

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726428A>T (hg19) ; chr5:g.132390736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390736A>T , CM000667.2:g.132390736A>T	GRCh38
NC_000005.9:g.131726428A>T , CM000667.1:g.131726428A>T	GRCh37
NC_000005.8:g.131754327A>T	NCBI36
NG_008982.1:g.26028A>T
NG_008982.2:g.26033A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.940A>T	ENSP00000388838.2:p.Asn314Tyr
ENST00000435065.7:c.1171A>T	ENSP00000402760.2:p.Asn391Tyr
ENST00000448810.6:c.1053-40A>T	ENSP00000401860.2:n.1053-40A>T
ENST00000685543.1:n.1240A>T
ENST00000686757.1:c.*263A>T	ENSP00000510721.1:n.*263A>T
ENST00000687740.1:n.3784A>T
ENST00000688151.1:n.2409A>T
ENST00000689271.1:c.946A>T	ENSP00000510797.1:p.Asn316Tyr
ENST00000690900.1:c.*263A>T	ENSP00000510703.1:n.*263A>T
ENST00000692212.1:n.2711A>T
ENST00000692355.1:c.352A>T
ENST00000692413.1:c.1081A>T	ENSP00000509374.1:p.Asn361Tyr
ENST00000692825.1:c.1167A>T	ENSP00000509447.1:n.1167A>T
ENST00000693308.1:c.1147A>T	ENSP00000509770.1:p.Asn383Tyr
ENST00000693763.1:n.2259A>T
ENST00000245407.8:c.1099A>T MANE Select	ENSP00000245407.3:p.Asn367Tyr
ENST00000245407.7:c.1099A>T	ENSP00000245407.3:p.Asn367Tyr
ENST00000435065.6:c.1171A>T	ENSP00000402760.2:p.Asn391Tyr
ENST00000447841.5:c.112-1697A>T
ENST00000448810.5:c.401-40A>T
ENST00000461013.5:n.8521A>T
ENST00000475308.1:n.1777A>T
ENST00000479605.5:n.202A>T
NM_001308122.1:c.1171A>T	NP_001295051.1:p.Asn391Tyr
NM_003060.3:c.1099A>T	NP_003051.1:p.Asn367Tyr
XM_011543590.1:c.481A>T	XP_011541892.1:p.Asn161Tyr
XR_427718.1:n.1459A>T
XR_948290.1:n.1394-1697A>T
XR_948291.1:n.1453A>T
XM_011543590.2:c.481A>T	XP_011541892.1:p.Asn161Tyr
XM_017009778.2:c.571A>T	XP_016865267.1:p.Asn191Tyr
XR_001742215.1:n.1394-40A>T
XR_001742216.1:n.1413-40A>T
XR_427718.2:n.1459A>T
XR_948290.2:n.1394-1697A>T
XR_948291.2:n.1453A>T
NM_003060.4:c.1099A>T MANE Select	NP_003051.1:p.Asn367Tyr
NM_001308122.2:c.1171A>T	NP_001295051.1:p.Asn391Tyr