Canonical Allele Identifier: CA218722370
Community Standard Title: NM_004211.5(SLC6A5):c.4-212A>C
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20600917A>C , CM000673.2:g.20600917A>C GRCh38
NC_000011.9:g.20622463A>C , CM000673.1:g.20622463A>C GRCh37
NC_000011.8:g.20579039A>C NCBI36
NG_013086.1:g.6518A>C
NG_013086.2:g.6518A>C

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.4-212A>C MANE Select NP_004202.4:n.4-212A>C
ENST00000525748.6:c.4-212A>C MANE Select ENSP00000434364.2:n.4-212A>C
NM_001318369.1:c.-560-212A>C NP_001305298.1:n.-560-212A>C
NM_001318369.2:c.-560-212A>C NP_001305298.1:n.-560-212A>C
NM_004211.3:c.4-212A>C NP_004202.2:n.4-212A>C
NM_004211.4:c.4-212A>C NP_004202.3:n.4-212A>C
ENST00000298923.11:c.4-212A>C ENSP00000298923.7:n.4-212A>C
ENST00000525748.5:c.4-212A>C ENSP00000434364.1:n.4-212A>C
XM_005253225.1:c.-560-212A>C XP_005253282.1:n.-560-212A>C
XM_011520473.1:c.4-212A>C XP_011518775.1:n.4-212A>C
XM_017018545.2:c.-57+1242A>C XP_016874034.1:n.-57+1242A>C