Canonical Allele Identifier: CA380937221
Gene: SLC22A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62979488C>G , CM000673.2:g.62979488C>G GRCh38
NC_000011.9:g.62746960C>G , CM000673.1:g.62746960C>G GRCh37
NC_000011.8:g.62503536C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_153276.3:c.1361G>C MANE Select NP_695008.1:p.Arg454Pro
ENST00000360421.9:c.1361G>C MANE Select ENSP00000353597.4:p.Arg454Pro
NM_004790.4:c.1361G>C NP_004781.2:p.Arg454Pro
NM_004790.5:c.1361G>C NP_004781.2:p.Arg454Pro
NM_153276.2:c.1361G>C NP_695008.1:p.Arg454Pro
NM_153277.2:c.1361G>C NP_695009.1:p.Arg454Pro
NM_153277.3:c.1361G>C NP_695009.1:p.Arg454Pro
NM_153278.2:c.1361G>C NP_695010.1:p.Arg454Pro
NM_153278.3:c.1361G>C NP_695010.1:p.Arg454Pro
ENST00000360421.8:c.1361G>C ENSP00000353597.4:p.Arg454Pro
ENST00000377871.7:c.1361G>C ENSP00000367102.3:p.Arg454Pro
ENST00000421062.2:c.1361G>C ENSP00000404441.2:p.Arg454Pro
ENST00000458333.6:c.1361G>C ENSP00000396401.2:p.Arg454Pro
ENST00000540654.5:c.*552G>C ENSP00000445946.1:n.*552G>C
XM_017018562.2:c.1364G>C XP_016874051.1:p.Arg455Pro