Canonical Allele Identifier: CA360807606

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726468C>G (hg19) ; chr5:g.132390776C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390776C>G , CM000667.2:g.132390776C>G	GRCh38
NC_000005.9:g.131726468C>G , CM000667.1:g.131726468C>G	GRCh37
NC_000005.8:g.131754367C>G	NCBI36
NG_008982.1:g.26068C>G
NG_008982.2:g.26073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.980C>G	ENSP00000388838.2:p.Ala327Gly
ENST00000435065.7:c.1211C>G	ENSP00000402760.2:p.Ala404Gly
ENST00000448810.6:c.1053C>G	ENSP00000401860.2:p.Cys351Trp
ENST00000685543.1:n.1280C>G
ENST00000686757.1:c.*303C>G	ENSP00000510721.1:n.*303C>G
ENST00000687740.1:n.3824C>G
ENST00000688151.1:n.2449C>G
ENST00000689271.1:c.986C>G	ENSP00000510797.1:p.Ala329Gly
ENST00000690900.1:c.*303C>G	ENSP00000510703.1:n.*303C>G
ENST00000692212.1:n.2751C>G
ENST00000692355.1:c.392C>G
ENST00000692413.1:c.1121C>G	ENSP00000509374.1:p.Ala374Gly
ENST00000692825.1:c.1207C>G	ENSP00000509447.1:n.1207C>G
ENST00000693308.1:c.1187C>G	ENSP00000509770.1:p.Ala396Gly
ENST00000693763.1:n.2299C>G
ENST00000245407.8:c.1139C>G MANE Select	ENSP00000245407.3:p.Ala380Gly
ENST00000245407.7:c.1139C>G	ENSP00000245407.3:p.Ala380Gly
ENST00000435065.6:c.1211C>G	ENSP00000402760.2:p.Ala404Gly
ENST00000447841.5:c.112-1657C>G
ENST00000448810.5:c.401C>G
ENST00000461013.5:n.8561C>G
ENST00000475308.1:n.1817C>G
ENST00000479605.5:n.242C>G
NM_001308122.1:c.1211C>G	NP_001295051.1:p.Ala404Gly
NM_003060.3:c.1139C>G	NP_003051.1:p.Ala380Gly
XM_011543590.1:c.521C>G	XP_011541892.1:p.Ala174Gly
XR_427718.1:n.1499C>G
XR_948290.1:n.1394-1657C>G
XR_948291.1:n.1493C>G
XM_011543590.2:c.521C>G	XP_011541892.1:p.Ala174Gly
XM_017009778.2:c.611C>G	XP_016865267.1:p.Ala204Gly
XR_001742215.1:n.1394C>G
XR_001742216.1:n.1413C>G
XR_427718.2:n.1499C>G
XR_948290.2:n.1394-1657C>G
XR_948291.2:n.1493C>G
NM_003060.4:c.1139C>G MANE Select	NP_003051.1:p.Ala380Gly
NM_001308122.2:c.1211C>G	NP_001295051.1:p.Ala404Gly