Canonical Allele Identifier: CA360809661

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729389C>A (hg19) ; chr5:g.132393697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393697C>A , CM000667.2:g.132393697C>A	GRCh38
NC_000005.9:g.131729389C>A , CM000667.1:g.131729389C>A	GRCh37
NC_000005.8:g.131757288C>A	NCBI36
NG_008982.1:g.28989C>A
NG_008982.2:g.28994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-488C>A	ENSP00000388838.2:n.1292-488C>A
ENST00000435065.7:c.1544C>A	ENSP00000402760.2:p.Pro515His
ENST00000448810.6:c.*324C>A	ENSP00000401860.2:n.*324C>A
ENST00000685543.1:n.1613C>A
ENST00000686757.1:c.*636C>A	ENSP00000510721.1:n.*636C>A
ENST00000686868.1:n.464C>A
ENST00000687740.1:n.4157C>A
ENST00000688151.1:n.2782C>A
ENST00000689271.1:c.1319C>A	ENSP00000510797.1:p.Pro440His
ENST00000690900.1:c.*636C>A	ENSP00000510703.1:n.*636C>A
ENST00000692212.1:n.4612C>A
ENST00000692355.1:c.725C>A
ENST00000692413.1:c.1454C>A	ENSP00000509374.1:p.Pro485His
ENST00000692825.1:c.1540C>A	ENSP00000509447.1:n.1540C>A
ENST00000693308.1:c.1520C>A	ENSP00000509770.1:p.Pro507His
ENST00000693763.1:n.2632C>A
ENST00000245407.8:c.1472C>A MANE Select	ENSP00000245407.3:p.Pro491His
ENST00000245407.7:c.1472C>A	ENSP00000245407.3:p.Pro491His
ENST00000435065.6:c.1544C>A	ENSP00000402760.2:p.Pro515His
ENST00000447841.5:c.316C>A
ENST00000448810.5:c.734C>A
ENST00000461013.5:n.8894C>A
ENST00000475308.1:n.2150C>A
NM_001308122.1:c.1544C>A	NP_001295051.1:p.Pro515His
NM_003060.3:c.1472C>A	NP_003051.1:p.Pro491His
XM_011543590.1:c.854C>A	XP_011541892.1:p.Pro285His
XR_948290.1:n.1598C>A
XM_011543590.2:c.854C>A	XP_011541892.1:p.Pro285His
XM_017009778.2:c.944C>A	XP_016865267.1:p.Pro315His
XR_001742215.1:n.1727C>A
XR_001742216.1:n.1746C>A
XR_427718.2:n.1832C>A
XR_948290.2:n.1598C>A
XR_948291.2:n.1826C>A
NM_003060.4:c.1472C>A MANE Select	NP_003051.1:p.Pro491His
NM_001308122.2:c.1544C>A	NP_001295051.1:p.Pro515His