Canonical Allele Identifier: CA341569939
Gene: SLC6A17 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110174012G>C , CM000663.2:g.110174012G>C GRCh38
NC_000001.10:g.110716634G>C , CM000663.1:g.110716634G>C GRCh37
NC_000001.9:g.110518157G>C NCBI36
NG_051945.1:g.28499G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331565.5:c.484G>C MANE Select ENSP00000330199.3:p.Gly162Arg
ENST00000331565.4:c.484G>C ENSP00000330199.3:p.Gly162Arg
NM_001010898.2:c.484G>C NP_001010898.1:p.Gly162Arg
XM_006710643.1:c.484G>C XP_006710706.1:p.Gly162Arg
NM_001010898.3:c.484G>C NP_001010898.1:p.Gly162Arg
XM_006710643.2:c.484G>C XP_006710706.1:p.Gly162Arg
NM_001010898.4:c.484G>C MANE Select NP_001010898.1:p.Gly162Arg