Canonical Allele Identifier: CA356324635

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.9782088A>C , CM000666.2:g.9782088A>C GRCh38
NC_000004.11:g.9783712A>C , CM000666.1:g.9783712A>C GRCh37
NC_000004.10:g.9392810A>C NCBI36
NG_012024.1:g.5455A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000798.5:c.59A>C (DRD5) MANE Select NP_000789.1:p.Gln20Pro
ENST00000304374.4:c.59A>C (DRD5) MANE Select ENSP00000306129.2:p.Gln20Pro
NM_000798.4:c.59A>C (DRD5) NP_000789.1:p.Gln20Pro
ENST00000304374.3:c.59A>C (DRD5) ENSP00000306129.2:p.Gln20Pro
ENST00000503803.5:n.386-2023T>G (SLC2A9)
ENST00000508585.5:n.182-10719T>G (SLC2A9)
XM_006713968.2:c.1601-2023T>G (SLC2A9) XP_006714031.1:n.1601-2023T>G
XM_006713968.4:c.1601-2023T>G (SLC2A9) XP_006714031.1:n.1601-2023T>G
XM_011513856.1:c.1420-2023T>G (SLC2A9) XP_011512158.1:n.1420-2023T>G
XM_011513856.3:c.1420-2023T>G (SLC2A9) XP_011512158.1:n.1420-2023T>G
XM_011513857.1:c.1333-2023T>G (SLC2A9) XP_011512159.1:n.1333-2023T>G
XM_011513858.1:c.1333-2023T>G (SLC2A9) XP_011512160.1:n.1333-2023T>G
XM_011513862.1:c.1024-2023T>G (SLC2A9) XP_011512164.1:n.1024-2023T>G
XM_011513862.3:c.1024-2023T>G (SLC2A9) XP_011512164.1:n.1024-2023T>G
XM_011513863.1:c.1024-2023T>G (SLC2A9) XP_011512165.1:n.1024-2023T>G
XM_011513864.1:c.1012-2023T>G (SLC2A9) XP_011512166.1:n.1012-2023T>G
XM_011513864.2:c.1012-2023T>G (SLC2A9) XP_011512166.1:n.1012-2023T>G
XM_011513867.1:c.862-2023T>G (SLC2A9) XP_011512169.1:n.862-2023T>G
XM_011513867.3:c.862-2023T>G (SLC2A9) XP_011512169.1:n.862-2023T>G
XM_017008457.2:c.1601-10719T>G (SLC2A9) XP_016863946.1:n.1601-10719T>G
XM_017008459.1:c.958-2023T>G (SLC2A9) XP_016863948.1:n.958-2023T>G
XM_024454151.1:c.1033-2023T>G (SLC2A9) XP_024309919.1:n.1033-2023T>G
XR_925341.1:n.1697-2023T>G (SLC2A9)
XR_925341.3:n.1778-2023T>G (SLC2A9)