Canonical Allele Identifier: CA360809773

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729415A>T (hg19) ; chr5:g.132393723A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393723A>T , CM000667.2:g.132393723A>T	GRCh38
NC_000005.9:g.131729415A>T , CM000667.1:g.131729415A>T	GRCh37
NC_000005.8:g.131757314A>T	NCBI36
NG_008982.1:g.29015A>T
NG_008982.2:g.29020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-462A>T	ENSP00000388838.2:n.1292-462A>T
ENST00000435065.7:c.1570A>T	ENSP00000402760.2:p.Ile524Phe
ENST00000448810.6:c.*350A>T	ENSP00000401860.2:n.*350A>T
ENST00000685543.1:n.1639A>T
ENST00000686757.1:c.*662A>T	ENSP00000510721.1:n.*662A>T
ENST00000686868.1:n.490A>T
ENST00000687740.1:n.4183A>T
ENST00000688151.1:n.2808A>T
ENST00000689271.1:c.1345A>T	ENSP00000510797.1:p.Ile449Phe
ENST00000690900.1:c.*662A>T	ENSP00000510703.1:n.*662A>T
ENST00000692212.1:n.4638A>T
ENST00000692355.1:c.751A>T
ENST00000692413.1:c.1480A>T	ENSP00000509374.1:p.Ile494Phe
ENST00000692825.1:c.1566A>T	ENSP00000509447.1:n.1566A>T
ENST00000693308.1:c.1546A>T	ENSP00000509770.1:p.Ile516Phe
ENST00000693763.1:n.2658A>T
ENST00000245407.8:c.1498A>T MANE Select	ENSP00000245407.3:p.Ile500Phe
ENST00000245407.7:c.1498A>T	ENSP00000245407.3:p.Ile500Phe
ENST00000435065.6:c.1570A>T	ENSP00000402760.2:p.Ile524Phe
ENST00000447841.5:c.342A>T
ENST00000448810.5:c.760A>T
ENST00000461013.5:n.8920A>T
ENST00000475308.1:n.2176A>T
NM_001308122.1:c.1570A>T	NP_001295051.1:p.Ile524Phe
NM_003060.3:c.1498A>T	NP_003051.1:p.Ile500Phe
XM_011543590.1:c.880A>T	XP_011541892.1:p.Ile294Phe
XR_948290.1:n.1624A>T
XM_011543590.2:c.880A>T	XP_011541892.1:p.Ile294Phe
XM_017009778.2:c.970A>T	XP_016865267.1:p.Ile324Phe
XR_001742215.1:n.1753A>T
XR_001742216.1:n.1772A>T
XR_427718.2:n.1858A>T
XR_948290.2:n.1624A>T
XR_948291.2:n.1852A>T
NM_003060.4:c.1498A>T MANE Select	NP_003051.1:p.Ile500Phe
NM_001308122.2:c.1570A>T	NP_001295051.1:p.Ile524Phe