Canonical Allele Identifier: CA360804999

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721052A>T (hg19) ; chr5:g.132385360A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385360A>T , CM000667.2:g.132385360A>T	GRCh38
NC_000005.9:g.131721052A>T , CM000667.1:g.131721052A>T	GRCh37
NC_000005.8:g.131748951A>T	NCBI36
NG_008982.1:g.20652A>T
NG_008982.2:g.20657A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1046A>T	ENSP00000388838.2:n.665+1046A>T
ENST00000435065.7:c.757A>T	ENSP00000402760.2:p.Ile253Leu
ENST00000448810.6:c.685A>T	ENSP00000401860.2:p.Ile229Leu
ENST00000686757.1:c.704A>T	ENSP00000510721.1:p.Asn235Ile
ENST00000687740.1:n.1845A>T
ENST00000688151.1:n.1877A>T
ENST00000689271.1:c.671+1040A>T	ENSP00000510797.1:n.671+1040A>T
ENST00000690900.1:c.672-16A>T	ENSP00000510703.1:n.672-16A>T
ENST00000692212.1:n.511A>T
ENST00000692355.1:c.204+1059A>T
ENST00000692413.1:c.704A>T	ENSP00000509374.1:p.Asn235Ile
ENST00000692825.1:c.753A>T	ENSP00000509447.1:n.753A>T
ENST00000693308.1:c.698A>T	ENSP00000509770.1:p.Asn233Ile
ENST00000693763.1:n.1845A>T
ENST00000245407.8:c.685A>T MANE Select	ENSP00000245407.3:p.Ile229Leu
ENST00000245407.7:c.685A>T	ENSP00000245407.3:p.Ile229Leu
ENST00000415928.5:c.454A>T	ENSP00000388838.1:p.Ile152Leu
ENST00000435065.6:c.757A>T	ENSP00000402760.2:p.Ile253Leu
ENST00000437841.6:c.426A>T	ENSP00000400553.1:p.Ter142Tyr
ENST00000448810.5:c.33A>T
ENST00000461013.5:n.8107A>T
NM_001308122.1:c.757A>T	NP_001295051.1:p.Ile253Leu
NM_003060.3:c.685A>T	NP_003051.1:p.Ile229Leu
XM_011543590.1:c.67A>T	XP_011541892.1:p.Ile23Leu
XR_427718.1:n.1045A>T
XR_948290.1:n.1026A>T
XR_948291.1:n.1039A>T
XM_011543590.2:c.67A>T	XP_011541892.1:p.Ile23Leu
XM_017009778.2:c.157A>T	XP_016865267.1:p.Ile53Leu
XR_001742215.1:n.1026A>T
XR_001742216.1:n.1045A>T
XR_427718.2:n.1045A>T
XR_948290.2:n.1026A>T
XR_948291.2:n.1039A>T
NM_003060.4:c.685A>T MANE Select	NP_003051.1:p.Ile229Leu
NM_001308122.2:c.757A>T	NP_001295051.1:p.Ile253Leu