Canonical Allele Identifier: CA355012120
Community Standard Title: NM_174878.3(CLRN1):c.65T>A (p.Leu22His)
Gene: CLRN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972644A>T , CM000665.2:g.150972644A>T GRCh38
NC_000003.11:g.150690431A>T , CM000665.1:g.150690431A>T GRCh37
NC_000003.10:g.152173121A>T NCBI36
NG_009168.1:g.5356T>A , LRG_700:g.5356T>A

Transcript Alleles

HGVS Amino-acid Change
NM_174878.3:c.65T>A MANE Select NP_777367.1:p.Leu22His
ENST00000327047.6:c.65T>A MANE Select ENSP00000322280.1:p.Leu22His
NM_001195794.1:c.65T>A , LRG_700t1:c.65T>A NP_001182723.1:p.Leu22His
NM_001256819.1:c.65T>A NP_001243748.1:p.Leu22His
NM_001256819.2:c.65T>A NP_001243748.1:p.Leu22His
NM_174878.2:c.65T>A NP_777367.1:p.Leu22His
NR_046380.2:n.356T>A
NR_046380.3:n.84T>A
ENST00000327047.5:c.65T>A ENSP00000322280.1:p.Leu22His
ENST00000328863.8:c.65T>A ENSP00000329158.4:p.Leu22His
ENST00000468836.1:c.-336T>A ENSP00000419892.1:n.-336T>A
ENST00000468836.2:c.41T>A ENSP00000419892.2:p.Leu14His
ENST00000472224.1:n.71T>A
XR_924167.1:n.377T>A