Canonical Allele Identifier: CA747181950
Community Standard Title: NM_022136.5(SAMSN1):c.562-776T>A
Gene: SAMSN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.14501511A>T , CM000683.2:g.14501511A>T GRCh38
NC_000021.8:g.15873832A>T , CM000683.1:g.15873832A>T GRCh37
NC_000021.7:g.14795703A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_022136.5:c.562-776T>A MANE Select NP_071419.3:n.562-776T>A
ENST00000400566.6:c.562-776T>A MANE Select ENSP00000383411.2:n.562-776T>A
NM_001256370.1:c.766-776T>A NP_001243299.1:n.766-776T>A
NM_001256370.2:c.766-776T>A NP_001243299.1:n.766-776T>A
NM_001286523.1:c.355-776T>A NP_001273452.1:n.355-776T>A
NM_001286523.2:c.355-776T>A NP_001273452.1:n.355-776T>A
NM_001395857.1:c.1450-776T>A NP_001382786.1:n.1450-776T>A
NM_001395858.1:c.1546-776T>A NP_001382787.1:n.1546-776T>A
NM_022136.4:c.562-776T>A NP_071419.3:n.562-776T>A
ENST00000285670.6:c.766-776T>A ENSP00000285670.2:n.766-776T>A
ENST00000285670.7:c.766-776T>A ENSP00000285670.2:n.766-776T>A
ENST00000400564.5:c.58-776T>A ENSP00000383409.1:n.58-776T>A
ENST00000400566.5:c.562-776T>A ENSP00000383411.1:n.562-776T>A
ENST00000619120.4:c.355-776T>A ENSP00000480850.1:n.355-776T>A
ENST00000644288.1:n.941-776T>A
ENST00000647101.1:c.1450-776T>A ENSP00000493867.1:n.1450-776T>A
XM_011529684.1:c.508-776T>A XP_011527986.1:n.508-776T>A
XM_011529684.2:c.508-776T>A XP_011527986.1:n.508-776T>A
XM_011529685.1:c.412-776T>A XP_011527987.1:n.412-776T>A
XM_011529686.1:c.562-776T>A XP_011527988.1:n.562-776T>A
XM_011529687.1:c.358-776T>A XP_011527989.1:n.358-776T>A
XM_017028427.1:c.562-776T>A XP_016883916.1:n.562-776T>A
XR_937544.1:n.658-776T>A
XR_937587.1:n.339+23844A>T