Canonical Allele Identifier: CA360809669

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729391T>A (hg19) ; chr5:g.132393699T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393699T>A , CM000667.2:g.132393699T>A	GRCh38
NC_000005.9:g.131729391T>A , CM000667.1:g.131729391T>A	GRCh37
NC_000005.8:g.131757290T>A	NCBI36
NG_008982.1:g.28991T>A
NG_008982.2:g.28996T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-486T>A	ENSP00000388838.2:n.1292-486T>A
ENST00000435065.7:c.1546T>A	ENSP00000402760.2:p.Tyr516Asn
ENST00000448810.6:c.*326T>A	ENSP00000401860.2:n.*326T>A
ENST00000685543.1:n.1615T>A
ENST00000686757.1:c.*638T>A	ENSP00000510721.1:n.*638T>A
ENST00000686868.1:n.466T>A
ENST00000687740.1:n.4159T>A
ENST00000688151.1:n.2784T>A
ENST00000689271.1:c.1321T>A	ENSP00000510797.1:p.Tyr441Asn
ENST00000690900.1:c.*638T>A	ENSP00000510703.1:n.*638T>A
ENST00000692212.1:n.4614T>A
ENST00000692355.1:c.727T>A
ENST00000692413.1:c.1456T>A	ENSP00000509374.1:p.Tyr486Asn
ENST00000692825.1:c.1542T>A	ENSP00000509447.1:n.1542T>A
ENST00000693308.1:c.1522T>A	ENSP00000509770.1:p.Tyr508Asn
ENST00000693763.1:n.2634T>A
ENST00000245407.8:c.1474T>A MANE Select	ENSP00000245407.3:p.Tyr492Asn
ENST00000245407.7:c.1474T>A	ENSP00000245407.3:p.Tyr492Asn
ENST00000435065.6:c.1546T>A	ENSP00000402760.2:p.Tyr516Asn
ENST00000447841.5:c.318T>A
ENST00000448810.5:c.736T>A
ENST00000461013.5:n.8896T>A
ENST00000475308.1:n.2152T>A
NM_001308122.1:c.1546T>A	NP_001295051.1:p.Tyr516Asn
NM_003060.3:c.1474T>A	NP_003051.1:p.Tyr492Asn
XM_011543590.1:c.856T>A	XP_011541892.1:p.Tyr286Asn
XR_948290.1:n.1600T>A
XM_011543590.2:c.856T>A	XP_011541892.1:p.Tyr286Asn
XM_017009778.2:c.946T>A	XP_016865267.1:p.Tyr316Asn
XR_001742215.1:n.1729T>A
XR_001742216.1:n.1748T>A
XR_427718.2:n.1834T>A
XR_948290.2:n.1600T>A
XR_948291.2:n.1828T>A
NM_003060.4:c.1474T>A MANE Select	NP_003051.1:p.Tyr492Asn
NM_001308122.2:c.1546T>A	NP_001295051.1:p.Tyr516Asn