Canonical Allele Identifier: CA360807746

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726536A>T (hg19) ; chr5:g.132390844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390844A>T , CM000667.2:g.132390844A>T	GRCh38
NC_000005.9:g.131726536A>T , CM000667.1:g.131726536A>T	GRCh37
NC_000005.8:g.131754435A>T	NCBI36
NG_008982.1:g.26136A>T
NG_008982.2:g.26141A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1048A>T	ENSP00000388838.2:p.Met350Leu
ENST00000435065.7:c.1279A>T	ENSP00000402760.2:p.Met427Leu
ENST00000448810.6:c.*59A>T	ENSP00000401860.2:n.*59A>T
ENST00000685543.1:n.1348A>T
ENST00000686757.1:c.*371A>T	ENSP00000510721.1:n.*371A>T
ENST00000687740.1:n.3892A>T
ENST00000688151.1:n.2517A>T
ENST00000689271.1:c.1054A>T	ENSP00000510797.1:p.Met352Leu
ENST00000690900.1:c.*371A>T	ENSP00000510703.1:n.*371A>T
ENST00000692212.1:n.2819A>T
ENST00000692355.1:c.460A>T
ENST00000692413.1:c.1189A>T	ENSP00000509374.1:p.Met397Leu
ENST00000692825.1:c.1275A>T	ENSP00000509447.1:n.1275A>T
ENST00000693308.1:c.1255A>T	ENSP00000509770.1:p.Met419Leu
ENST00000693763.1:n.2367A>T
ENST00000245407.8:c.1207A>T MANE Select	ENSP00000245407.3:p.Met403Leu
ENST00000245407.7:c.1207A>T	ENSP00000245407.3:p.Met403Leu
ENST00000435065.6:c.1279A>T	ENSP00000402760.2:p.Met427Leu
ENST00000447841.5:c.112-1589A>T
ENST00000448810.5:c.469A>T
ENST00000461013.5:n.8629A>T
ENST00000475308.1:n.1885A>T
ENST00000479605.5:n.310A>T
NM_001308122.1:c.1279A>T	NP_001295051.1:p.Met427Leu
NM_003060.3:c.1207A>T	NP_003051.1:p.Met403Leu
XM_011543590.1:c.589A>T	XP_011541892.1:p.Met197Leu
XR_427718.1:n.1567A>T
XR_948290.1:n.1394-1589A>T
XR_948291.1:n.1561A>T
XM_011543590.2:c.589A>T	XP_011541892.1:p.Met197Leu
XM_017009778.2:c.679A>T	XP_016865267.1:p.Met227Leu
XR_001742215.1:n.1462A>T
XR_001742216.1:n.1481A>T
XR_427718.2:n.1567A>T
XR_948290.2:n.1394-1589A>T
XR_948291.2:n.1561A>T
NM_003060.4:c.1207A>T MANE Select	NP_003051.1:p.Met403Leu
NM_001308122.2:c.1279A>T	NP_001295051.1:p.Met427Leu