Canonical Allele Identifier: CA360809784

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729419T>A (hg19) ; chr5:g.132393727T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393727T>A , CM000667.2:g.132393727T>A	GRCh38
NC_000005.9:g.131729419T>A , CM000667.1:g.131729419T>A	GRCh37
NC_000005.8:g.131757318T>A	NCBI36
NG_008982.1:g.29019T>A
NG_008982.2:g.29024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-458T>A	ENSP00000388838.2:n.1292-458T>A
ENST00000435065.7:c.1574T>A	ENSP00000402760.2:p.Leu525Gln
ENST00000448810.6:c.*354T>A	ENSP00000401860.2:n.*354T>A
ENST00000685543.1:n.1643T>A
ENST00000686757.1:c.*666T>A	ENSP00000510721.1:n.*666T>A
ENST00000686868.1:n.494T>A
ENST00000687740.1:n.4187T>A
ENST00000688151.1:n.2812T>A
ENST00000689271.1:c.1349T>A	ENSP00000510797.1:p.Leu450Gln
ENST00000690900.1:c.*666T>A	ENSP00000510703.1:n.*666T>A
ENST00000692212.1:n.4642T>A
ENST00000692355.1:c.755T>A
ENST00000692413.1:c.1484T>A	ENSP00000509374.1:p.Leu495Gln
ENST00000692825.1:c.1570T>A	ENSP00000509447.1:n.1570T>A
ENST00000693308.1:c.1550T>A	ENSP00000509770.1:p.Leu517Gln
ENST00000693763.1:n.2662T>A
ENST00000245407.8:c.1502T>A MANE Select	ENSP00000245407.3:p.Leu501Gln
ENST00000245407.7:c.1502T>A	ENSP00000245407.3:p.Leu501Gln
ENST00000435065.6:c.1574T>A	ENSP00000402760.2:p.Leu525Gln
ENST00000447841.5:c.346T>A
ENST00000448810.5:c.764T>A
ENST00000461013.5:n.8924T>A
ENST00000475308.1:n.2180T>A
NM_001308122.1:c.1574T>A	NP_001295051.1:p.Leu525Gln
NM_003060.3:c.1502T>A	NP_003051.1:p.Leu501Gln
XM_011543590.1:c.884T>A	XP_011541892.1:p.Leu295Gln
XR_948290.1:n.1628T>A
XM_011543590.2:c.884T>A	XP_011541892.1:p.Leu295Gln
XM_017009778.2:c.974T>A	XP_016865267.1:p.Leu325Gln
XR_001742215.1:n.1757T>A
XR_001742216.1:n.1776T>A
XR_427718.2:n.1862T>A
XR_948290.2:n.1628T>A
XR_948291.2:n.1856T>A
NM_003060.4:c.1502T>A MANE Select	NP_003051.1:p.Leu501Gln
NM_001308122.2:c.1574T>A	NP_001295051.1:p.Leu525Gln