Canonical Allele Identifier: CA391617048
Community Standard Title: NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter)
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34235196C>A , CM000677.2:g.34235196C>A GRCh38
NC_000015.9:g.34527397C>A , CM000677.1:g.34527397C>A GRCh37
NC_000015.8:g.32314689C>A NCBI36
NG_007951.1:g.107869G>T , LRG_270:g.107869G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365088.1:c.3346G>T MANE Select NP_001352017.1:p.Glu1116Ter
ENST00000354181.8:c.3346G>T MANE Select ENSP00000346112.3:p.Glu1116Ter
NM_001042494.1:c.3169G>T NP_001035959.1:p.Glu1057Ter
NM_001042494.2:c.3169G>T NP_001035959.1:p.Glu1057Ter
NM_001042495.1:c.3169G>T NP_001035960.1:p.Glu1057Ter
NM_001042495.2:c.3169G>T NP_001035960.1:p.Glu1057Ter
NM_001042496.1:c.3319G>T NP_001035961.1:p.Glu1107Ter
NM_001042496.2:c.3319G>T NP_001035961.1:p.Glu1107Ter
NM_001042497.1:c.3301G>T NP_001035962.1:p.Glu1101Ter
NM_001042497.2:c.3301G>T NP_001035962.1:p.Glu1101Ter
NM_005135.2:c.3193G>T , LRG_270t1:c.3193G>T NP_005126.1:p.Glu1065Ter
NM_133647.1:c.3346G>T , LRG_270t2:c.3346G>T NP_598408.1:p.Glu1116Ter
NM_133647.2:c.3346G>T NP_598408.1:p.Glu1116Ter
ENST00000290209.9:c.3193G>T ENSP00000290209.5:p.Glu1065Ter
ENST00000354181.7:c.3346G>T ENSP00000346112.3:p.Glu1116Ter
ENST00000397702.6:c.3169G>T ENSP00000380814.2:p.Glu1057Ter
ENST00000397707.6:c.3301G>T ENSP00000380819.2:p.Glu1101Ter
ENST00000458406.6:c.3169G>T ENSP00000387725.2:p.Glu1057Ter
ENST00000558589.5:c.3319G>T ENSP00000452776.1:p.Glu1107Ter
ENST00000558667.5:c.3346G>T ENSP00000453473.1:p.Glu1116Ter
ENST00000559523.5:c.*369G>T ENSP00000452904.1:n.*369G>T
ENST00000559664.5:c.*555G>T ENSP00000453702.1:n.*555G>T
ENST00000560164.5:c.2782G>T ENSP00000452705.1:p.Glu928Ter
ENST00000560611.5:c.3346G>T ENSP00000454168.1:p.Glu1116Ter
ENST00000561080.5:c.*584G>T ENSP00000454069.1:n.*584G>T
ENST00000676379.1:c.3346G>T ENSP00000502539.1:p.Glu1116Ter
XM_006720793.2:c.3199G>T XP_006720856.1:p.Glu1067Ter
XM_006720793.4:c.3199G>T XP_006720856.1:p.Glu1067Ter
XM_011522267.1:c.3346G>T XP_011520569.1:p.Glu1116Ter
XM_011522268.1:c.3346G>T XP_011520570.1:p.Glu1116Ter
XR_429476.2:n.3352G>T
XR_931960.3:n.4625G>T